KR101721480B1 - Method and system for detecting chromosomal abnormality - Google Patents

Abstract

Disclosed are a method and a system for detecting chromosomal abnormality. A method for detecting chromosomal abnormality according to an embodiment of the present invention includes: obtaining a sequencing data by target sequencing a dielectric extracted from a specimen; confirming the quality of the sequencing data; processing the sequencing data having the confirmed quality; and analyzing the processed sequencing data to detect a variation, wherein a first sequencing data derived from a target area of the target sequencing is analyzed to detect the variation, a second sequencing data derived from a non-target area of the target sequencing is analyzed to detect the variation, and first and second sequencing data are analyzed to detect the variation.

Description

METHOD AND SYSTEM FOR DETECTING CHROMOSOMAL ABNORMALITY [0002]

The present invention relates to a chromosome abnormality detection method and system, and more particularly to a chromosomal abnormality detection method and system for target sequencing a dielectric of a specimen, The present invention relates to a chromosome abnormality detection method and system capable of detecting a chromosome abnormality.

When a mutation occurs in a specific chromosomal region, diseases such as developmental disorder, mental retardation, and behavioral disorders are induced, which is called a chromosomal disorder. Especially, developmental disorder has a high prevalence rate of about 3 ~ 10% of total pediatrics. Early detection and treatment can improve the language ability and decrease the problem behavior.

On the other hand, along with the development of biotechnology, various biological information can be obtained from the DNA sequence information of the DNA sequence. Studies have been actively conducted to detect diseases related to gene abnormality by decoding DNA sequence information (Genome Sequencing).

Conventionally, Genome Sequencing for obtaining a large amount of nucleotide sequence information has a problem that analysis cost is high and analysis time is long. Next Generation Sequencing (NGS) techniques have been introduced since 2007. As the next generation sequencing (NGS) technology has been developed, it has been used for sequence analysis and various mutation information has been used as additional data for various diagnoses.

Due to the development of NGS technology, which is the latest base sequence analysis technology, large-capacity nucleotide sequence information is much easier and less expensive than conventional methods, and studies for applying the NGS technology to the chromosomal disorder disease are being conducted have.

Korea Patent Publication No. 2015-0070111 (published on June 24, 2014)

Disclosure of the Invention In order to solve the above problems, the present invention provides a method for target sequencing a dielectric of a specimen, analyzing data derived from a target region of the target sequencing and data derived from a non- The present invention provides a chromosomal aberration test method and system capable of performing a chromosomal abnormality test.

The problems to be solved by the present invention are not limited to the above-mentioned problems, and other matters not mentioned can be clearly understood by those skilled in the art from the following description.

According to another aspect of the present invention, there is provided a method for detecting a chromosomal abnormality, comprising the steps of: subjecting a dielectric extracted from a specimen to target sequencing to obtain sequencing data; Confirming the quality of the sequenced data; Processing the sequenced data with the confirmed quality; And analyzing the processed sequencing data to detect a variation, analyzing the first sequencing data derived from the target region of the target sequencing to detect the variation, and determining second sequencing data derived from the non-target region of the target sequencing Analyzing the first and second sequencing data to detect the mutation, and analyzing the first and second sequencing data to detect the mutation, respectively.

In addition, the step of acquiring the sequencing data may include a step of subject sequencing a genome extracted from blood drawn from a newborn baby.

In addition, the step of acquiring the sequencing data may include a step of capturing and amplifying 3400 or more areas in the dielectric extracted from the specimen to generate a target panel.

The obtaining of the sequencing data may include sequencing the target region corresponding to the captured region of the target panel with at least 3400 probes to obtain the first sequencing data, And acquiring the second sequencing data by sequencing the second sequencing data.

In addition, the step of detecting each of the mutations may include analyzing the first sequencing data of 300 to 320 kb.

The step of detecting each of the mutations may include analyzing the first sequenced data to detect a mutation at an exon size level, analyzing the second sequenced data to detect a mutation at a level of 400 to 600 kb, And analyzing the first and second sequencing data to detect a variation in chromosome size level.

The step of detecting each of the mutations may further comprise detecting copy number variation (CNV) by the mutation at the exon magnitude level and the mutation at the magnitude level of 400 to 600 kb, (Loss of Heterozygosity) and UPD (Uniparental Disomy).

The step of detecting the mutation may include analyzing the first sequenced data with a CONTRA algorithm, analyzing the second sequenced data with a CopywriteR algorithm, and comparing the first and second sequenced data with a B-allele frequency ) Analysis algorithm, respectively.

According to an aspect of the present invention, there is provided a chromosomal abnormality testing system including a data acquiring unit acquiring sequencing data obtained by target sequencing in a sequencer; A data processing unit for checking the quality of the sequenced data and processing the sequenced data having the confirmed quality; And a variation detection unit for analyzing the processed sequencing data to detect a variation, wherein the variation detection unit comprises: first sequencing data derived from a target area of the target sequencing; and second sequencing data derived from a non-target area of the target sequencing 2 Detect mutations using sequencing data.

In addition, the data obtaining unit may obtain the sequencing data obtained by using the target panel generated by capturing and amplifying 3400 or more areas in the dielectric extracted from the specimen.

The mutation detecting unit may analyze the first sequencing data to detect a mutation at an exon size level, analyze the second sequencing data to detect a mutation at a level of 400 to 600 kb, 2 Sequencing data can be analyzed to detect mutations at chromosome size levels.

The transition detector may analyze the first sequenced data with the CONTRA algorithm, analyze the second sequenced data with the CopywriteR algorithm, and analyze the first and second sequenced data with the BAF analysis algorithm, respectively.

Other specific details of the invention are included in the detailed description and drawings.

According to the present invention, chromosome abnormality can be efficiently detected by subjectively sequencing 3,400 or more genome regions and using sequencing information derived from a portion other than the target region as well as sequencing information derived from the target region .

(CNV), loss of heterozygosity (LOH), and UPD (Uniparental Disomy) can be detected by integrally analyzing the data derived from the target area of the target sequencing and the data derived from the non-target area, The major developmental disorders of the female species can be examined.

1 is a flowchart of a chromosome abnormality test method according to an embodiment of the present invention.
2 is a diagram showing a flow of target sequencing.
3 is a diagram illustrating a sequence of analyzing sequencing data according to target sequencing.
4 is a diagram showing an analysis resolution of the sequenced data according to the target sequencing.
5A to 5D are diagrams illustrating related diseases that can be examined through a chromosome abnormality test method according to an embodiment of the present invention.
FIG. 6 is a block diagram of a chromosome abnormality detection system according to an embodiment of the present invention.
FIG. 7 is a diagram illustrating a concept of a healthcare service using the chromosome abnormality detection system of FIG.

BRIEF DESCRIPTION OF THE DRAWINGS The advantages and features of the present invention and the manner of achieving them will become apparent with reference to the embodiments described in detail below with reference to the accompanying drawings. The present invention may, however, be embodied in many different forms and should not be construed as being limited to the embodiments set forth herein. Rather, these embodiments are provided so that this disclosure will be thorough and complete, and will fully convey the scope of the invention to those skilled in the art. Is provided to fully convey the scope of the invention to those skilled in the art, and the invention is only defined by the scope of the claims. Like reference numerals refer to like elements throughout the specification.

Although the first, second, etc. are used to describe various elements, components and / or sections, it is needless to say that these elements, components and / or sections are not limited by these terms. These terms are only used to distinguish one element, element or section from another element, element or section. Therefore, it goes without saying that the first element, the first element or the first section mentioned below may be the second element, the second element or the second section within the technical spirit of the present invention.

The terminology used herein is for the purpose of illustrating embodiments and is not intended to be limiting of the present invention. In the present specification, the singular form includes plural forms unless otherwise specified in the specification. As used herein, the terms "comprises" and / or "made of" means that a component, step, operation, and / or element may be embodied in one or more other components, steps, operations, and / And does not exclude the presence or addition thereof.

Unless defined otherwise, all terms (including technical and scientific terms) used herein may be used in a sense commonly understood by one of ordinary skill in the art to which this invention belongs. Also, commonly used predefined terms are not ideally or excessively interpreted unless explicitly defined otherwise.

In this regard, throughout the specification, like reference numerals refer to like elements, and it will be understood that each configuration of the processing flowchart diagrams and combinations of flowchart illustrations may be performed by computer program instructions. These computer program instructions may be loaded into a processor of a general purpose computer, special purpose computer, or other programmable data processing apparatus, so that those instructions, which are executed through a processor of a computer or other programmable data processing apparatus, Thereby creating means for performing functions.

It should also be noted that in some alternative embodiments, the functions mentioned in the configurations may occur out of order. For example, the two configurations shown in succession may in fact be performed substantially concurrently, or the configurations may sometimes be performed in reverse order according to the corresponding function.

Hereinafter, the present invention will be described in more detail with reference to the accompanying drawings.

1 is a flowchart of a chromosome abnormality test method according to an embodiment of the present invention.

Referring to FIG. 1, a chromosome abnormality testing method according to an embodiment of the present invention acquires sequencing data by target sequencing a dielectric extracted from a specimen (S10), and confirms the quality of the sequencing data (S20), processing the sequenced data having the quality confirmed (S30), and analyzing the processed sequencing data to detect a variation (S40).

At this time, at the time of detecting the transition (S40), the first sequencing data derived from the target region of the target sequencing is analyzed to detect the mutation, and the second sequencing data derived from the non-target region of the target sequencing is analyzed to detect the mutation do. In addition, the first and second sequencing data may be analyzed to detect a variation. Thus, the chromosomal abnormality can be checked by integrally analyzing data derived from the target region of the target sequencing and data derived from the non-target region. For example, using the first algorithm for analyzing the first sequenced data and the second algorithm for analyzing the second sequenced data simultaneously, the analysis time can be reduced by analyzing the entire sequencing data, and the analytical performance can be improved by increasing the analysis accuracy have.

Here, the first sequencing data is sequencing data derived from a target area of the target sequencing, and the second sequencing data is sequencing data derived from a non-target area of the target sequencing. For example, in order to perform target sequencing of a dielectric extracted from a specimen, when a target panel is generated, sequencing data obtained from portions of the dielectric complementary to each probe using a plurality of probes, And the sequencing data obtained from the rest of the regions other than the regions of the complementary binding to the plurality of probes becomes the second sequencing data. The first sequencing data is sequencing data obtained in a target area of the target sequencing, and the second sequencing data is sequencing data obtained in a non-target area that is a remaining area of the target area according to the target sequencing.

Hereinafter, each step of the chromosome abnormality test method according to one embodiment of the present invention will be described in detail.

2 is a diagram showing a flow of target sequencing.

When the genome extracted from the specimen is subjected to target sequencing to acquire sequencing data (S10), the genome extracted from the blood or umbilical cord blood collected from the newborn can be subjected to target sequencing. For example, as shown in FIG. 2, blood is collected from the heel of a newborn baby, the collected blood is centrifuged, and fetal DNA is extracted from the centrifuged blood to perform next generation sequencing (NGS) have.

In addition, when the genome extracted from the specimen is subjected to target sequencing to obtain sequencing data (S10), it is possible to capture and amplify 3400 or more regions in the dielectric extracted from the specimen to generate a target panel. More than 3400 probes can be used to read the nucleotide sequences of 3400 or more genome regions and to accurately detect deletion or redundancy of specific regions based on the nucleotide sequences. For example, a target region corresponding to a captured region of a target panel may be sequenced with at least 3400 probes to obtain first sequencing data, and a non-target region other than the target region may be sequenced to obtain second sequencing data have. The number of nucleotide sequences in the target panel can be calculated as a relative ratio and the deletion and / or redundancy can be checked, which will be described later.

In particular, when the target panel is generated by capturing and amplifying more than 3400 areas, the size of the first sequenced data derived from the target area may be 300 to 320 kb. That is, more than 3400 probes can be designed on the target panel to detect mutations in each disease. You can design more than 3400 probes on the panel and over cover more than 1200 disease-related genes with over 3400 genome-wide targeting.

Specifically, referring to FIG. 2, blood is extracted from a sample, for example, a heel of a newborn baby (S11), and genomic DNA is extracted from the blood (S12). Then, a DNA fragmentation in which DNA is cut into small pieces is performed using an ultrasonication method (S13), and a library is prepared by attaching a specific adapter (S14).

Thereafter, a hybridization is performed between a panel having a probe designed to be complementary to each part of the target dielectric and a dielectric sequence of a sample to be analyzed (S15). Here, the structure of the panel is described by OMIM (Online Mendelism Inheritance in Man; http://www.ncbi.nlm.nih.gov/omim), RareChromo (http://www.rarechromo.org), Orphanet (http: /www.orpha.net), and more than 80 chromosomal disorders associated with major developmental disorders are selected and probes are designed to detect mutations in each disease. For example, in a panel, more than 3400 probes can be designed to complement each other with more than 1200 genes. That is, at least one probe may complementarily bind to one gene.

Thereafter, magentic beads coated with streptavidin are added to perform capture and washing (S16), target enrichment is performed (S17), and then, , And performs sequencing in a sequencer that is an NGS platform (S18).

When the quality of the sequencing data is confirmed (S20), the quality of the base sequence can be measured and only the data exceeding the reference value can be filtered. For example, the quality can be measured using the open program SolexaQA. For example, the reference value of the quality measurement is applied to a phred score of 20 so that a base of a base sequence having a quality score of less than 20 is only a base sequence having a length of 25 bp or more Can be performed. Here, each base (A, C, T, G) of the sequenced data has an estimated quality, and the estimated quality is expressed through a Fred score, which is an error probability. A Phred score of 20 means an accuracy of 99%.

When processing the sequenced data whose quality has been confirmed (S30), data sorting, data format, data sorting, and the like can be performed. For example, sequencing data can be sorted using algorithms such as MAQ, ELAND, SHRiMP, ZOOM, SOAPv2, BFAST, MOSAIK, Novoalign, PERM, BOWTIE, BWA and SOAPv2. The sorted data can then be converted and sorted into SAM or BAM formatted files. This processed sequencing data is then analyzed through a data analysis pipeline that is optimized for target sequencing.

3 is a diagram illustrating a sequence of analyzing sequencing data according to target sequencing. FIG. 4 is a diagram showing an analysis resolution of the sequenced data according to the target sequencing.

Referring to FIG. 3, the processed sequencing data is analyzed through a data analysis pipeline optimized for target sequencing (S41), and the first sequencing data derived from the target region of the target sequencing and the second sequencing data derived from the non- Parallel processing of the data to detect the variation.

Referring back to FIG. 3, the first sequencing data is analyzed (S42), the variation at the exon size level is detected (S43), the second sequencing data is analyzed (S44), the variation at the level of 400 to 600 kb (S45), analyzes the first and second sequenced data (S46), and detects a variation at the chromosome size level (S47).

At this time, CNV (copy number variation) can be detected by the mutation at the exon size level and the 400-600kb level, and LOH Heterozygosity) and UPD (Uniparental Disomy).

The CNV (copy number variation) detected at the exon size level and the level of 400-600kb, and the LOH and UPD detected at the chromosome size level are basic data of the mutation-related disease information analysis (S48).

Referring to FIG. 4, there is shown a resolution of an area where the first and second sequenced data can be integrated to detect variation.

The first sequencing data derived from the target region of the target sequencing can be analyzed to precisely detect the CNV variation at the exon region level of a specific gene (a). At this time, the resolution at the exon region level may be three consecutive exon size levels. The first sequencing data is derived from a target region of the target sequencing, and the target region corresponds to the number of target panels generated by capturing and amplifying the region in the dielectric. For example, when 3400 or more regions are captured and amplified in a dielectric extracted from a specimen to generate a target panel, the number of spots for analyzing the first sequencing data may be more than 3,400. The number of spots for analyzing the first sequencing data may correspond to the number of probes.

Also, the second sequencing data derived from the non-target region of the target sequencing can be analyzed to detect the CNV variation in the dielectric region that is somewhat wider than the exon region (b). At this time, the resolution in a dielectric range somewhat wider than the exon region may be a level of 400 to 600 kb. The number of spots for obtaining the second sequencing data may be determined based on the number of target panels and a window size for analyzing the second sequencing data. . For example, when 3400 or more areas are captured and amplified in a dielectric extracted from a specimen to generate a target panel, if the window size for analyzing the second sequencing data is set to 50 kb, a spot for analyzing the second sequencing data the number of spots can be more than 54,000.

The first and second sequencing data are analyzed with BAF (B-allele frequency) to detect LOH (single diploid) and UPD (heterozygosity loss) mutations at the chromosome level (c). SNPs (single nucleotide polymorphisms) can be used to detect different bases in the DNA sequence of several people at the same position to detect LOH and UPD mutations at the chromosome level by the allele frequency. For example, more than 5000 SNPs related to LOH or UPD mutations can be screened, and the number of such SNPs is the number of spots for detecting mutations at the chromosomal level.

Hence, the first sequencing data and the second sequencing data are processed in parallel through the analysis pipeline of three paths, so that the analysis resolution and the analysis accuracy can be satisfied at the same time.

For example, deletion or duplication of a single disease gene can be detected through mutation detection in the exon region, and microdeletion or fine duplication can be examined through detection of mutation at a level of 400 to 600 kb. In addition, analysis of LOH and / or UPD is possible through mutation detection at the chromosome level.

In particular, to detect copy number variation (CNV), the first sequencing data may be analyzed by the CONTRA algorithm, the second sequencing data may be analyzed by the CopywriteR algorithm, and LOH (Loss of Heterozygosity) and UPD (Uniparental Disomy) The first and second sequenced data may be analyzed with a B-allele frequency (BAF) analysis algorithm. That is, the first sequencing data and / or the second sequencing data can be processed in parallel to reduce the processing time, and CNV at the exon size level, CNV at the 400 to 600 kb level, LOH at the chromosome level of Heterozygosity) and UPD (Uniparental Disomy). Here, the CONTRA algorithm and the CopywriteR algorithm are described in detail in an article "2012, Bioinformatics, doi: 10.1093 / bioinformatics / bts146" and "2015, Genome Biol, DOI 10.1186 / s13059-015-0617-1" It is public.

Chromosomal anomalies can be examined by parallel analysis of the sequencing data obtained by the target NGS sequencing, and chromosomal abnormalities related diseases can be detected based on the results of the analysis.

5A to 5D are diagrams illustrating related diseases that can be examined through the chromosome abnormality testing method according to an embodiment of the present invention.

As shown in FIGS. 5A to 5D, the sequencing data obtained by the target NGS sequencing is processed in parallel and integrated to detect 80 chromosome abnormality-related diseases. In addition, more than 270 chromosome aberration related diseases can be screened. The characteristics of the 80 chromosomal aberration-related diseases shown in Figs. 5A to 5D are as follows. 5A to 5D, 'chr' means chromosome (chromosome).

<Chromosome 1>

The associated diseases that can be detected on chromosome 1 are listed below.

1p36 Deletion syndrome: This is caused by microdeletion of a part of chromosome 1, occurring about 1 per 5,000 to 10,000 people. Developmental disorders, muscle tension reduction, convulsions, hearing loss, and growth disorders; The chromosomal location of chrl was 14550-28000000

The number of genes that can be detected by probes in chromosome 1 is about 42, and the specific gene positions are as follows.

WASH7P (14550-17718), SAMD11 (861341-866457), NOC2L (880436-894682), PUSL1 (1245996-1246086), FAM213B (2519815-2519905), LINC01134 (3831440-3831530), SPSB1 (9428503-9428593) (1), (2), (3), (4), (5) 25227534-25227624), PDIK1L 26440888-26440978, FAM76A 28071198-28088259, STX12 28099770-28149897, PPP1R8 28159252-28169814, THEMIS2 28208973-28209063, SRGAP2D 121115894-121129705, EMBP1 121261038 -121304134), ANKRD20A12P (142697601-142713327), LINC00875 (143744349-143744439), SRGAP2P2 (144013890-144053716), PDE4DIP (144851562-144864376), HEATR1 (236713252-236767826), ACTN2 (236906224-236906314), MTR (236990117- 237064114), MT1HL1 (237167515-237167605), ZP4 (238041378-238050164), CHRM3 (239877475-239877565), KMO (241714254-241750054), EXO1 (242016676-242042393), AKT3 (243708810-243809312), C1orf101 (244640834-244756885 ), HNRNPU (245019288-245023 (Chromosome 2), SMYD3 (246027099-246580701), SCCPDH (246922349-246922439), ZNF670 (247202097-247202187), ZNF496 (247471788-247493370), ZNF692 (249144413-249152087)

The following diseases are detectable on chromosome 2:

Jubert syndrome: Microdeletion of part of chromosome 2, caused by hypoplasia of the cerebellum and brainstem or due to malformations, respiratory abnormalities such as obesity, apnea or acute respiratory distress, dysfunction; The chromosomal location of chr2 is 110880912-110962638

2q23.1 Microdeletion Syndrome: Caused by microdeletion of chromosome 2, symptoms such as learning disabilities, language developmental disorders, convulsions, autism, sleep disorders, short stature; The chromosomal location of chr2 is 148700001-149900000

2p16.3 Deletion syndrome: Caused by microdeletion of chromosome 2, occurring at a frequency of about 1 in every 5000 people. Developmental delay, learning and speech disorders; The chromosomal location is 50145643-51259674 of chr2

2p15-p16.1 Microdeletion Syndrome: This is caused by microdeletion of chromosome 2, symptoms such as microcephaly, characteristic facial appearance, visual disturbance, renal impairment, eating disorder, growth retardation, learning disorder; The chromosomal location of chr2 was 59139200-62488871

The number of genes that can be detected by probes on chromosome 2 is about 97, and the specific gene positions are as follows.

FAM110C (40175-40265), SH3YL1 (218523-249832), GTF2A1L (48818848-48898819), LHCGR (48921358-48958446), FSHR (49210043-49247307), NRXN1 (50147471-50858285), ASB3 (53897427-53956696), CHAC2 (53994998-53995088), ERLEC1 (54024645-54045540), VRK2 (58275987-58366929), FANCL (58386611-58459263), BCL11A (60686899-60686989), PAPOLG (60998664-61021261), REL (61144037-61144127), PUS10 61181050-61239015), KIAA1841 (61308571-61344551), AHSA2 (61408452-61408542), USP34 (61431639-61622107), XPO1 (61715308-61726069), FAM161A (62067091-62067181), CCT4 (62106030-62106120), TMEM17 EHBP1 (62974513-63265959), LOC100132215 (63271794-63273744), ANKRD36BP2 (89065520-89087893), FAM95A (95421177-95421841), ANKRD20A8P (95426679-95464663), MALL (110873659-110873749), NPHP1 (110881232- 11096907), LINC00116 (110969107-110980460), TEX41 145425559-145828492, ACVR2A 148657036-148680656, ORC4 148695703-148778298, MBD5 148936270-149099889, EPC2 149402604-149539326, KIF5C 149679706-149861987 ), LYPD6B (150069526-150069616), L YPD6 (150294201-150294291), CERKL (182412354-182414443), NEUROD1 (182545229-182545319), SSFA2 (182761618-182786952), PPP1R1C (182850689-182982253), PDE1A (183006218-183129129), FSIP2 (186609048-186678565) (190740371-190584463), ORMDL1 (190640321-190640411), HIBCH (191152293-191152383), GLS 196145826-191795273), MYO1B (192194663-192272923), NABP1 (192543101-192549034), TMEFF2 (192820997-193049189), PCGEM1 (193614617-193614707), SLC39A10 (196521883-196521973), STK17B (197004388-197004478), CCDC150 -197540974), LOC100130452 (197565417-197565507), CCDC150 (197583246-197594806), GTF3C3 (197653965-197654055), C2orf66 (197672202-197672292), PGAP1 (197711780-197757961), ANKRD44 (198175366-198175456), MOB4 (198415009- 198415099), BOLL (198607789-198607879), TYW5 (200800667-200800757), SPATS2L (201281081-201281171), AOX1 (201462129-201521657), AOX2P (201588821-201640683), CLK1 (201721616-2017217 06), ORC2 (201785744-201822849), CFLAR 202013705-202013795, TRAK2 202262219-202262309, ALS2CR11 202410260-202410350, CDK15 202671166-202755624, LOC100652824 202955527-203055101, SUMO1 203075448-203075538 ), PER2 (239157733-239186517), TRAF3IP1 (239234485-239261574), TWIST2 (239756979-239757069), FLJ43879 (239841060-239847995), ANKMY1 (241418910-241465229), RNPEPL1 (241513602-241513692), GPR35 (241555821-241555911) , KIF1A (241661928-241727602), MTERFD2 (242029382-242029472), PPP1R7 (242102713-242102803), HDLBP (242174558-242202278), STK25 (242438081-242438171), BOK (242501782-242501872), ATG4B (242607552-242607642) D2HGDH (242684163-242684253), PDCD1 (242792695-242801031), CXXC11 (242811930-242814718), LOC728323 (243030852-243056885)

<Chromosome 3>

The following diseases are detectable on chromosome 3:

3q13 Microdeletion Syndrome: Caused by microdeletion on chromosome 3, symptoms such as dystocia, developmental disorder, characteristic facial appearance, and high palate; The chromosomal location of chr3 is 112963753-116362963

Dandy-Walker syndrome: Microdeletion of a part of chromosome 3 is caused by symptoms such as enlargement of the fourth ventricle and cerebellar dysfunction; The chromosomal location of chr3 was 129200000-148900000

3q29 Microdeletion Syndrome: Microdeletion of a part of chromosome 3 is caused by mental retardation, autism, long and narrow face, short finger, chest deformity, long finger; The chromosomal location of chr3 was 192300000-197804146

SETD5 syndrome: chromosome 3 is caused by microdeletion, mental retardation, developmental disorder, autism, microcephaly, low ears, hearing impairment, strabismus, and eyebrows; The chromosomal location of chr3 is 8700001-16400000

The number of genes that can be detected by probes on chromosome 3 is about 88, and the specific gene positions are as follows.

CHL1 (238467-440810), CNTN6 (1262389-1424788), IL5RA (3109956-3143490), TRNT1 (3170740-3170830), CRBN (3191978-3215889), SETMAR (4355343-4355433), SUMF1 (4494601-4494691), ITPR1 (4536107-4853091), BHLHE40 (4940222-5025738), EDEM1 (5241283-5252898), GRM7 (7188202-7456825), LMCD1 (8263575-8592305), SSUH2 (8661348-8686495), CAV3 (8775536-8775626), SRGAP3 TEDA3 (9834252-9834342), RPUSD3 (9885593-9885683), GHRLOS (10327439-10327529), SLC6A11 (10953781-10953871), VGLL4 (11606337) -11606427), PPARG (12447435-12447525), TMEM40 (12783934-12784024), NUP210 (13367318-13461734), COL6A4P1 (15206912-15207002), EAF1 (15477920-15478010), ANKRD28 (15727522-15755136), DAZL (16629215- (1), (2), (3), (4), (4), (5), (5), (5), (5) ), GTPBP8 (112709946-112715833), C3orf17 (112723026-112732884), WDR52 (113015607- 113138990), MIR8076 (113150961-113151051), SPICE1 (113172510-113212987), SIDT1 (113295746-113347502), ATP6V1A (113503566-113524331), GRAMD1C (113655156-113655246), KIAA1407 (113720447-113761666), QTRTD1 (113789534-113789624) ), DRD3 (113897518-113897608), ZBTB20 (114075999-114099202), LSAMP (115528880-116163855), TUSC7 (116428906-116432986), IGSF11 (118620598-118753572), C3orf30 (118867053-118867143), UPK1B (118892410-118892500) , EFCAB12 (129120384-129147433), MBD4 (129150059-129156723), RHO (129247664-129247754), ATP2C1 (130673845-130716568), DNAJC13 (132175117-132257493), NPHP3 (132419190-132419280), TF (133475108-133475198) RYK 133896806-133896896, KY 134343891-134343981, STAG1 136087992-136219146, DZIP1L 137807240-137807330, COPB2 139076571-139094428, RNF7 141462329-141462419, ATR 142217482-142297623, ZIC4 (147106654-147123293), ZIC1 (147127427-147134528), TM4SF18 (149037737-149051134), TM4SF1 (149087191-149104307), WWTR1 (149243811-149374924), UTS2B (190993042-190994659), CCDC50 (191075805-191107383) (19305977-193081143), LINC00887 (194030446-194030536), PPP1R2 (195250492-195250582), MUC4 (195479235-195497209), SLC51A (195954526-195954616), TM4SF19 (196051183-196051273), NRROS (196366656-196366746), PAK2 (196533458-196547385), DLG1 (196792584-196869659), FYTTD1 (197476427-197505317), LMLN (197687085-197687175), ANKRD18DP (197785272-197804146)

<Chromosome 4>

The following diseases are detectable on chromosome 4:

Wolf-Hirschhorn Syndrome: Microdeletion of a part of chromosome 4, severe mental retardation, characteristic facial appearance; The chromosomal location of chr4 is 53237-4500000

On the chromosome 4, there are about 44 genes that can be detected as probes, and the specific gene positions are as follows.

ZNF595 (53237-53327), ZNF718 (59340-60043), ZNF595 (83184-87112), ZNF718 (155550-155640), ZNF876P (206434-248605), PIGG (501243-527733), MYL5 (675704-675794), RNF212 (1090545-1090635), UVSSA (1341882-1369269), SLBP (1697958-1698048), LETM1 (1821087-1843344), NELFA (1988019-1988109), POLN (2082679-2195032), ZFYVE28 (2274913-2355775), TNIP2 HFSAC (3444780-3449333), STX18 (4543985-4707563), CYTL1 (5016592-5018929), STK32B (5053539-5448496), CWH43 (48988685-49030743), DCUN1D4 (52709309), MFSD10 (2934839-2934929) (Nos. 5,277,951 and 5,277,951), SLC7A11 (139012016-139163270), LINC00499 (139230888-139345395), NDUFC1 (140213678-140223682), CLGN (141309987-141347944), IL15 (142643074-142643164), GYPE (144797908-144797998) 146044273, MMAA 146567178-146567268, LSM6 147110948-147111038, PRMT10 148578989-148601593, DCLK2 151124949-151161634, RPS3A 151225338-152025428, PET112 152624980-152682112, ARFIP1 153803908-153803998 ), MND1 (154279655-154279745), LRAT (155665223-155665313), RBM46 (155702461-155720370), NPY2R (156136591-156136681), MAP9 (156274091-156296176), GUCY1A3 (156587944-156618136), FRG1 (190862054-190884348), LOC100288255 (190946326-190946416)

<Chromosome 5>

The following diseases are detectable on chromosome 5:

Syndrome Syndrome: Microdeletion of a part of chromosome 5 is caused by a defect in the larynx, which makes a crying sound similar to a cat's crying. Symptoms such as microcephaly, broad nose, strabismus, dystocia, heart malformation, and severe mental retardation; The chromosomal location of chr5 is 53237-15000000

Sotto's syndrome: Cerebral hyperglycemia with chromosome 5 abnormality, characterized by overgrowth of the body during 1 to 2 years of age, resulting in a tall, head-like, facial feature; The chromosomal location of chr5 is 175724636-177052116

The number of genes that can be detected by probes in chromosome 5 is about 34, and the specific gene positions are as follows.

SLC9A3 (479970-492080), SLC12A7 (1060467-1089215), SLC6A3 (1411369-1422105), LINC01020 (5034516-5034606), SRD5A1 (6656196-6656286), ADCY2 (7698378-7820785), MTRR (1), (2), (3), (4), (5), (5) HIFD2A (175816496-175816586), FAF2 (175927030-175927120), CDHR2 (176002309-176018312), EIF4E1B (176071363), PARF8 (49961772-49961862), LOC643201 (175572068-175607899), KIAA1191 (175775261-175775351) -176071453), HK3 (176310775-176317927), ZNF346 (176489060-176489150), NSD1 (176666766-176700774), RAB24 176729402-176729492, RGS14 176792929-176797673, GRK6 176859227-176867814, PDLIM7 176916857- 176916947), DDX41 (176939313-176943005), PROP1 (177419597-177423079), N4BP3 (177546689-177550836), RMND5B (177569878-177574852), GNB2L1 (180663940-180666167)

<Chromosome 6>

The following diseases are detectable on chromosome 6:

6q23-q24 deletion: Microdeletion of part of chromosome 6 is caused by feeding and feeding disorders with gastroesophageal reflux, small jaws, low ears, thin lips, short neck, hand and foot deformities, Symptom; The chromosomal location of chr6 is 130300001-149000000

6q 25 deletion syndrome: Microdeletion of part of chromosome 6 is caused by symptoms such as feeding and eating disorders, hydrocephalus, convulsions, heart disease, strabismus, cauda equina; The chromosomal location of chr6 is 149000001-161000000

ARID1B syndrome is caused by microdeletion of a part of chromosome 6, symptoms such as intellectual deterioration and learning disability, developmental delay, language and cognitive impairment; Chromosomal location was found in chr6 at 157097064-157533913

Reiger's syndrome: caused by microdeletion of a part of chromosome 6, less dental development, and various deformities of the eye; Chromosomal locations were found in the 1610361-1614450

6q11-q16 deletion: Microdeletion of a part of chromosome 6 is caused by symptoms such as dystocia, respiratory disturbance due to tracheo-esophageal fistula, feeding disorder, cord hernia, small jaw; Chromosomal locations are found in chr6 61535611-105630647

6q15-q23 deletion: Microdeletion of a part of chromosome 6 is caused by symptoms such as developmental disorder, feeding disorder accompanied by gastroesophageal reflux, hypotonia, heart abnormality, hand deformity; The chromosomal location of chr6 is 88000001-139000000

The number of genes that can be detected by probes in chromosome 6 is about 129, and the specific gene positions are as follows.

FOXF2 (1310666-1390756), FOXC1 (1610360-1614450), GMDS (1624205-2249160), GMDS1 (2399140-2399230), C6orf195 (2635003-2635093), MYLK4 (2679533-2751107), WRNIP1 (2779566-2779656), ZNF451 (56993537-56997960), RAB23 (57053549-57061371), LOC100506188 (57125873-57125963), PRIM2 57182411-57499046), GUSBP4 (58246132-58285392), MTRNR2L9 (62284225-62284315), KHDRBS2 (62390369-62887198), LGSN (63990981-64004929), PTP4A1 (64288343-64289244), EYS (66044911-66417118), LMBRD1 -70459311), FAM135A (71191735-71248094)

LINC00472 (72128379-72128469), RIMS1 (72945331-73111566), KCNQ5 (73879478-73879568), DDX43 (74115435-74127144), SLC17A5 (74345119-74345209), TMEM30A (75964279-75964369), SENP6 (76344430-76426592) (80196100-80196190), C6orf7 (80516949-80517039), BCKDHB (80910654-80910744), DOPEY1 (83828611-83863329), ME1 (83933520-83933610), CYB5R4 (84569428-84646064), KIAA1009 (84836119-84913801), NT5E SLC35A1 (88182645-88221632), RARS2 (88226516-88273944), ORC3 (88311505) -88374564), PM20D2 (89864499-89864589), UFL1 (96973176-96997416), KLHL32 (97533064-97533154), TSTD3 (99979280-99979370), PRDM13 (100056637-100056727), GRIK2 (102266256-102266346), PREP (105725832- 10594457), PRDM1 (106534287-106554355), ATG5 (106740897-106740987), AIM1 (106973157-107011765), LOC100996634 (109576589-109576679), METTL24 (110620194-110620284), HS3ST5 (114378007-114378097), KPNA5 (117026234-117053460) ), SERINC1 (122772809-122779 790), C6orf58 (127901457-127901547), THEMIS (128176209-128176299), PTPRK (128298088-128718817), ARHGAP18 (129901200-129963107), TMEM244 (130152415-130152505), L3MBTL3 (130339723-130454726), MED23 (131911477-131944591 , ENPP3 (131973956-132068283), TBPL1 (134303702-134303792), ALDH8A1 (135271112-135271202), MAP3K5 (136901446-137019768), IL20RA (137322255-137322345), MIR3145 (138756345-138756435), FLJ46906 (139012910-139013000) , CCDC 28A (139100995-139101085), ECT2L (139133999-139224467), REPS1 (139232415-139242262), VTA1 (142540815-142540905)

PHACTR2 (144070117-144148611), ADGB (146965910-147067196), STXBP5 (147293148-147684700), SASH1 (148840811-148867261), UST (149208098-149275092), LOC100128176 (149276298-149285803), UST (149340278-149396592), TAB2 (149656696-149720325), PCMT1 (150092305-150092395), MTHFD1L (151206775-151286184), SYNE1 (152451839-152804347), MTRF1L (153314005-153314095), CNKSR3 (154771265-154771355), SCAF8 (155116163-155136945), TIAM2 (155578195-155578285), CLDN20 (155585239-155585329), NOX3 (155716560-155757661), ARID1B (157150352-157528832), ZDHHC14 (157802755-158066865), SYNJ2 (158422228-158422318), GTF2H5 (158591491 S152, S152, S152, S152, S152, S152, S152, (1), LPA (160962131-161012099), MAP3K4 (161494526-161533798), AGPAT4 (161554316-161695083), PARK2 (161781133-162394436), QKI (163876337-163876427), PDE10A (165743651-165895862), T (1), SFT2D1 (166736314-166736404), MPC1 (166778629-166778719), RPS6KA2 (166874193-166874283), RNASET2 (167344524-167366051), FGFR1OP (167412858-167436055), TTLL2 (167738596-167738686), C6orf123 -168197459), KIF25 (168397054-168442785), THBS2 (169623411-169650909), WDR27 (169857471-170089055), LINC00574 (170195324-170195414), DLL1 (170594381-170594471), PSMB1 (170844303-170844393), TBP 170881660), PDCD2 (170885687-170889186)

<Chromosome 7>

The following diseases are detectable on chromosome 7:

Cirrhosis syndrome: Caused by microdeletion of a part of chromosome 7, symptoms such as sacral dysplasia (ankle bone aplasia), anorectal anomalies, renal anomalies and hydronephrosis, dystocia, feeding and eating disorders; The chromosomal location was found to be 147900001-159138663

Greedy Syndrome: Microdeletion of a part of chromosome 7 is caused by symptoms such as hypertrophy of the fingers and toes, as well as soybean. The chromosomal location of chr7 is 42000546-42277468

Williams syndrome is caused by microdeletion of a part of chromosome 7, accompanied by external features such as tiny nose tips, long nails, large mouths, thick lips, small balls, and cardiac and vascular malformations; The chromosomal location of chr7 is 72744455-74142672

7q22 deletion syndrome: It is caused by microdeletion of a part of chromosome 7, and it is known to be related to autism due to central nervous system disorder of the brain. Symptoms such as mental retardation, convulsions and repetitive behavior; The chromosomal location is 98000000-107400000 of chr7

The number of genes that can be detected by the probe on chromosome 7 is about 79, and the specific gene positions are as follows.

LOC100507642 (152448-154479), FAM20C (195597-296719), LOC100288524 (330144-330748), CDK13 (40037133-40085574), SUGCT (40221545-40900185), INHBA (41733555-41817752), GLI3 (42003348-42276639), C7orf25 (42949648-42949738), PSMA2 (42957360-42971806), MRPL32 (42971982-42972072), LOC100506895 (43549041-43549131), ZNF479 (57188047-57207487), GUSBP10 (57233506-57247764), MIR3147 (57472718-57472808), ZNF733P 62752390-62758751), LOC100287834 (62809641-62809731), LINC01005 (63486043-63486133), ZNF679 (63688896-63726836), NSUN5 (72718271-72722824), TRIM50 (72726974-72730671), FZD9 (72849234-72849324), BAZ1B -72880723), BCL7B (72951156-72951246), TBL2 (72988315-72988405), MLXIPL (73010999-73038745), WBSCR22 (73101332-73101422), STX1A (73115047-73115137), ABHD11 (73151763-73151853), ELN 73477563), LIMK1 (73520212-73536207), LAT2 (73634050-3639074), RFC2 (73668611-73668701), CLIP2 (73778511-73778601), GTF2IRD1 (73922424-73952529), STAG3L2 (74306575-74306665), WBSCR16 (74482496-74486563 ), LMTK2 (97770736-97800964), TE Cp3A43 (99463583-99463673), TAF6 (99709356-99709446), STAG3 (99796106-99802369), TSC22D4 (99796106-99802369), BRI3 (97911669-97922158), RPC1A (98923516-98923606), ZNF789 (99070552-99070642) (100076614-100076704), AN (100344198-100374169), ACHE (100487740-100487830), PLOD3 (100855134-100855224), MYL10 (101256921-101257011), RELN (103123324-103301943), RINT1 (105173248-105206081), PIK3CG COG5 (107115214-107115304), COG5, DUS4L (107204455-107204545), DUS4L (107218282-107218372), BCAP29 (107261963-107262053), PRKAR2B (106781339-106801179), COG5 (106849627-107013171) , SLC26A3 (107406072-107423526), DLD (107533639-107559544), LAMB4 (107696219-107756572), NRCAM (107823206-108096809), NOBOX (144095482-144096577), TPK1 (144149850-144533148), MIR548I4 (147098793-147098883) MIR548F3 (147592332-147797677), C7orf33 (148287894-148287984), ZNF786 (148777701-148777791), LOC155060 (148989305-148989395), ZNF467 (149466189-149466279), RNU6-34P (150064004-150064094), KCNH2 (150646967-150647057) , CDK5 (150 AGAP3 (150813864-150841218), PRKAG2 (151574131-151574221), HTR5A (154862647-154862737), LINC01006 (156265054-156265144), NCAPG2 (158424090-158482623), VIPR2 (158822127-158896541)

<Chromosome 8>

The following diseases are detectable on chromosome 8:

8p23 Deletion syndrome: Microdeletion of part of chromosome 8 is caused by symptoms such as heart disease, developmental delay, learning disability, impulsive behavior and hyperactivity; The chromosomal location of chr8 is 116509-12700000

Trisomy 8 Syndrome: This is caused by an increase in the number of chromosome 8 with chromosomal anomalies. Symptoms such as narrow thorax and dry body, stiff joints, kidney disease, learning disorders and speech disorders, and fan wrinkles deep in the toes ; The chromosomal location is located at 116509-146280454 of chr8

Langer-Gideon syndrome is caused by microdeletion of a subset of chromosomes 8, including mental retardation, hearing and speech disorders, growth retardation, dwarfism, thin and thin hair, less hair loss, western pear bulbous fingers, Symptom; The chromosomal location of chr8 is 117700000-127300000

The number of genes that can be detected by probes on chromosome 8 is about 45, and the specific gene positions are as follows.

OR4F21 (116509-116599), RPL23AP53 (169308-180900), ZNF596 (182156-196291), FBXO25 (399991-413123), LOC100507435 (1567917-1569864), KBTBD11 (1951735-1951825), MCPH1 (6289018-6303472), XKR5 (6673307-6681192), DEFA8P (6808259-808349), FAM86B3P (8093359-8093449), MIR4660 (8905946-8906036), TDH (11197142-11223239), LINC00208 (11435969-11436059), CTSB (11704574-11710206), KIAA1456 12803284-12863833), DLC1 13162418-13372315, SGCZ 13947714-14412383, POTEA 43147710-3197081, LINC00293 47752487-47765904, PKHD1L1 110401299-110516683, EBAG9 110569172-110569262, SYBU 110587278 -110587368), TRPS1 (116423973-116424063), UTP23 (117778841-117778931), RAD21 (117864822-117874174), SLC30A8 (118051432-118170051), SAMD12 (119452090-119452180), COLEC10 (120103378-120103468), NOV 120429141), DSCC1 (120850528-120865416), MRPL13 (121437531-121437621), HAS2 (122629350-122629440), ZHX2 (123986073-123986163), C8orf76 (124238761-124238851), KLHL38 (124658046-124659246), FER1L6 (125025847-125025937) ), MIR6844 (125520741-125520831) , ZNF572 (125985553-125985643), NSMCE2 (126163421-126163511), FAM84B (127567161-127567251), PCAT1 (128025664-128025754), PRNCR1 (128098434-128098524), CCAT1 (128220749-128231329), ZNF252P (146201411-146228288) C8orf33 (146277808-146280454) <chromosome 9>

Related diseases that can be detected on chromosome 9 are listed below.

9 trisomy syndrome: Caused by the presence of some genetic material on chromosome 9, including mental retardation, growth and developmental defects, dystonia, microcephaly, skeletal and central nervous system disorders, gastrointestinal disorders, Chromosomal location was found in chr9 12734-141109853

9p Chromosome Syndrome: Causes of duplication of chromosome 9, symptoms such as developmental disorder, intellectual deterioration, skull and facial deformity, finger or toe deformity, heart disease; The chromosomal location of chr9 was 12734-49000000

Cliff's syndrome: Caused by microdeletion of part of chromosome 9, severe mental retardation and developmental deficits, cognitive impairment, dystocia, heart anomalies, thick and protruding tongue, protruding jaws; Chromosomal location was found to be 140513443-140730578

The number of genes that can be detected by probes in chromosome 9 is about 20, and the specific gene positions are as follows.

FAM27E2, FAM27A2, FAM27A2, FAM27A2, FAM27A2, FAM27A2, FAM27A2, FAM27A2, FAM27E2, FAM27E2, FAM27E2, FAM27E2, FAM27E2, FAM27E2, (45734054-45734144), FAM27E1 (46386443-46386533), SPATA31A7 (65507491-65508209), AQP7P1 (67271514-67289383), DPH7 (140458927-140459017), ZMYND19 (140477480-140482267), ARRDC1 (140507358-140508884), C9orf37 14071072-140513190), EHMT1 (140605405-140678746), MIR602 (140732874-140732964), CACNA1B (140773513-141000222), TUBBP5 (141044617-141071316), FAM157B (141107531-141109853)

<Chromosome 10>

The following diseases are detectable on chromosome 10:

10q26 deletion syndrome: This is caused by microdeletion of a part of chromosome 10, characterized by a small jaw and an asymmetric triangular face, symptoms such as growth disorder, feeding and feeding disorder, dystonia, learning disorder; The chromosomal location of chr10 is 105800001-135534747

DiGorge syndrome type 2: Microdeletion of part of chromosome 10 is caused by hypoglycemia, hypothyroidism, and heart disease; The chromosomal location of chr10 is 6600000-17300000

10q23 deletion syndrome: Microdeletion of a part of chromosome 10 is caused by symptoms of learning disorder, speech disorder, feeding and feeding disorders, heart disease, scoliosis, internal bending of the foot; The chromosomal location of chr10 is 70600001-105800000

Sei-Barber-Bissicker syndrome: This is caused by microdeletion of a part of chromosome 10, including learning disorder, dystocia, heart disease, eyelid retraction with small eyes, latent testis, hypoparathyroidism; The chromosomal location of chr10 is 74900001-77700000

The number of genes that can be detected by probes in chromosome 10 is about 77, and the specific gene positions are as follows.

TUBB8 93395-95194, ZMYND11 180520-283615, IL2RA 6061381-6061471, RBM17 6139036-6156106, PFKFB3 6255603-6268286, LOC399715 6319665-6373265, PRKCQ 6622593-6622683, SFMBT2 (7242366-7326034), ATP5C1 (7841761-7841851), GATA3 (8105985-8106075), CELF2 (11140191-11140281), UPF2 (11971879-12056148), SEC61A2 (12185110-12209867), UCMA (13275540-13275630), BEND7 HSPA14 (14887139-14887229), DCLRE1C (14991015-14991105), ITGA8 (15573054-15730032), TRDMT1 (17199566-17199656), ST8SIA6 (17365065-17450171), PTPLA (17636248-17646032), STAM (17686206 SEPT7P9 (38672045-38691683), LINC00999 (38717103-38734484), LOC441666 (42830455-42863423), CCNYL2 (42904586-42947138), DNA2 (70182039-70192254), SLC25A16 (70246890- TIT1 70320263-70426952 CCAR1 DDX50 70661085-70694659 SAR1A CDH23 73156838-73490338 MCU 74594106-74594196 OIT3 74660143-74684239 ), PLA2G12B (74702409-74702499), P4HA1 (74790033-74856673), NUDT13 (7 (7535874-75185897), USP54 (75276774-75331270), ZSWIM8 (75550788-75561172), CAMK2G (75583775), FAM149B1 (74994591-74994681), DNAJC9 (75035429-75035519), ANXA7 (75148076-75148166), MSS51 -75609100), C10orf55 (75672772-75672862), VCL (75834536-75863677), ADK 75984277-75984367, KAT6B 76602702-76790538, VDAC2 76971977-76972067, COMTD1 76995636-76995726, KCNMA1 78633460- CYP2C18 (96493079-96493169), HPSE2 (100218120-100481544), NOLC1 (103912065-103919762), CYP17A1 (104591271-104591361), DLG5 (79570877-79613248), POLR3A (79741949-79777448), STAMBPL1 (90665263-90682188) , SH3PXD2A (105365569-105526934), OBFC1 (105648821-105664926), SLK (105727516-105779631), MIR936 (105807850-105807940), WDR96 (105889809-105967547), SMC3 (112342315-112359536), GPAM (113921415-113941551) , NRAP 115365944-115406779, TDRD1 115950704-115971755, PNLIP 118321021-118321111, BAG3 121436607-121436697, FLJ46361 124516329-124554200, BUB3 124924066-124924156, BCCIP 127519130-127519220, GLRX3 (131964812-1319649 02), MIR202HG (135061297-135061387), SYCE1 (135368445-135372462)

<Chromosome 11>

The following diseases are detectable on chromosome 11:

Jacobson syndrome: Microdeletion at chromosome 11 is caused by eating disorders such as eating and feeding disorders, cognitive disorders, learning disorders, growth retardation, sleep disorders, hemostatic disorders, and characteristic facial appearance; The chromosomal location of chr11 is 110400000-130800000

Wilms 'tumor: Caused by microdeletion of a part of chromosome 11, symptoms such as Wilms' tumor, iris aplasia, genitourinary anomalies, mental retardation, WAGR syndrome; The chromosomal location is 31000000-36400000 in chr11

Photokey-Sharp syndrome: Microdeletion of a part of chromosome 11 is caused mainly by skull and facial deformity; The chromosomal location of chr11 is 43500000-48800000

There are about 80 genes that can be detected by probes on chromosome 11, and the specific gene positions are as follows.

(3,134,504 to 1,154,404), ODF3 (196858-198294), ARL14EP (30344654-30358684), MPPED2 (30408226-30607804), DCDC1 (31284350-31284440), IMMP1L (31455017-31455107), PAX6 (31815576-31832876), WT1 (32409912-32456724), CCDC73 (32663528-32739702), QSER1 (32977555-32977645), TCP11L1 (33076160-33076250), CSTF3 (33107443-33123849), HIPK3 (33279106-33369282), FBXO3 3363015-33796050), CAPRIN1 (34104500-34119321), ABTB2 (34186810-34186900), ELF5 (34502371-34502461), SLC1A2 (35323084-35323174), PRR5L (36422646-36485368), TRAF6 (36516516-36523360), RAG1 (36589572 -36589662), C11orf74 (36616348-36680750), LRRC4C (40136772-41481128), LOC100507205 (42209265-42262678), HNRNPKP3 (43283897-43283987), MIR670 (43581209-43581299), ACCSL (44077567-44077657), CD82 44626987), CRY2 (45880308-45880398), GYLTL1B (45943175-45949590), DGKZ (46393974-46397957), AMBRA1 (46455056-46567285), C11orf49 (46958276-46958366), DDB2 (47238459-47238549), MADD (47296367-47330937 ), PSMC3 (47440662-47440752), KBTBD4 (47594500-47594590 ), NUP160 (47809750-47841013), TRIM49B (49056613-49056703), FOLH1 (49196441-49230078), LOC441601 (50239113-50257536), LOC646813 (50368293-50378159), TRIM48 (55029677-55038298), TRIM51HP (55061160-55065047) , DDX10 (108546343-108788717), ZC3H12C (110007718-110034096), RDX (110106825-110150488), FDX1 (110306575-110306665), ARHGAP20 (110449809-110501478), SIK2 (111575742-111575832), ALG9 (111708219-111708309) BCO2 (112071371-112071461), TTC12 (113186956-113234644), USP28 (113683067-113723334), RBM7 (114273548-114273638), APOA1 (116708047-116708137), SIDT2 (117057281-117063373), RNF214 (117152753-117152843), FXYD6 -FXYD2 (117712498-117712588), TMPRSS13 (117785123-117785213), KMT2A (118348754-118380793), PHLDB1 (118498648-118520885), SLC37A4 (118896688-118896778), HYOU1 (118917349-118926875), HINFP (119002571-119002661) CBL 119155699-119155789, TRIM29 119993667-119993757, POU2F3 120117147-120117237, SORL1 121367623-121495935, SPA17 124551275-124551365, PKNOX2 125280678-125280768, CDON 125864186-125891324, NFRKB (129743730-129752080), NTM (132081933-132180111), OPCML (132287486-133402326), SPATA19 (133711917-133714231), GLB1L2 (134201859-134212791), B3GAT1 (134249474-134257682), LOC283177 (134306481-134350816)

<Chromosome 12>

The following diseases are detectable on chromosome 12:

Pallister-Killian Syndrome: Causes of partial duplication of chromosome 12, such as dysthymia, growth retardation, learning disorder, diaphragmatic hernia, short arms and legs, hearing impairment; The chromosomal location of chr12 is 87955-35800000

The number of genes that can be detected by probes in chromosome 12 is about 9, and the specific gene positions are as follows.

ALG10B (38710666-38718790), CPNE8 (39046891-39096744), ZNF268 (SEQ ID NO: 36) (133758091-133781258), ANHX (133795182-133803008)

<Chromosome 13>

The following diseases are detectable on chromosome 13:

Patau syndrome: Causes of trisomy 13, more than 80% of deaths within 1 month of birth, cleft lip and palate, microcephaly, finger deformities, heart disease, severe mental retardation; The chromosomal location of chr13 is 19312346-115070822

The number of genes that can be detected by probes on chromosome 13 is about 5, and the specific gene positions are as follows.

LINC00417 (19312346-19314220), ANKRD20A9P (19427280-19427370), LINC00408 (19479602-19500710), RNU6-52P (19717124-19717214), UPF3A (115047144-115070822)

<Chromosome 14>

The following diseases are detectable on chromosome 14:

Kagami-Ogata syndrome: A genetic disorder in which both chromosomes 14 are transmitted from only one side of the parents. Symptoms such as short stature, sexual maturity, language developmental delay, feeding and feeding disorders, and microcephaly; The chromosomal location of chr14 was 19378038-107349540

14q22-q32 Deletion: Microdeletion of a part of chromosome 14 is caused by symptoms such as eating and feeding disorders, learning disorders, dystonia, heart disease, hand and foot deformities, frequent respiratory infections; The chromosomal location was found to be 50900001-107349540

14q31-q32 deletion: Micro-deletion of part of chromosome 14, respiratory disturbance of neonatal period, eating and feeding disorder, characteristic facial appearance, seizures, genital abnormalities in boys; The chromosomal location was 79300001-107349540 of chr14

14q 32 Deletion syndrome: Microdeletion of a part of chromosome 14 is caused by symptoms such as dystocia, palpebral fissures, eating and feeding disorders, frequent infections, heart disease, and developmental delay; The chromosomal location is 8900001-107349540 of chr14

There are about 82 genes that can be detected by probes on chromosome 14, and the specific gene positions are as follows.

OR11H12 (19378038-19378128), LOC642426 (19409981-19410071), POTEG (19553605-19566091), BMS1P17 (19904370-19904460), OR11H2 (20181537-20181627), OR4Q3 (20215946-20216036), SOS2 (50596654-50628308), L2HGDH (50745210-50769722), ATP5S (50792591-50792681), CDKL1 (50796559-50862575), ATL1 (51026835-51095009), NIN (51214721-51238163), TRIM9 (51442981-51443071), LINC00640 (51815206-51815296), TXNDC16 52905972-52978078), PSMC6 (53175021-53190763), FERMT2 (53331184-53348119), CNIH1 54908011-54908101, GCH1 55326381-55326471, DLGAP5 55621384-55648018, TBPL2 55907143-55907233, KTN1 56101265 560146388), LINC00520 (56263311-56263401), OTX2 (57272140-57272230), C14orf37 (58471120-58599978), ACTR10 58674650-58686474, PSMA3 58724634-58737729, FLJ31306 58764719-58764809, ARID4A 58772740- NK9 (75558032-75587293), TMEM63C (77686344-77715762), SLIRP (78174437-78174527), SNW1 (78187067-78217787), JKAMP (59971303-59971393), ACTN1 (69446729-69446819), ENTPD5 (74439612-74453601) ), C14orf178 (78235868-78235958), ADCK1 (78325 RPS6KA5 (91341579), RX6KA5 (91341579), RX6KA5 (91341579), RX6KA5 (91341579) -9,404,952), ATXN3 (92537293-92537383), SLC24A4 (92792222-92913786), MOAP1 (93650936-93651026), C14orf142 (93673272-93673362), BTBD7 (93706620-93730280), ASB2 (94419730-94419820), IFI27 94582951), SERPINA13P (95113044-95113134), TCL6 (96117994-96136891), TCL1B (96152815-96158669), LINC00617 (96343266-96343356), PAPOLA (96999828-96999918), VRK1 (97313592-97327028), CCNK (99968583-99968673 ), CCDC85C (99982529-99982619), CYP46A1 (100166350-100192605), WARS (100808776-100835554), WDR25 (100995430-100995520), MIR433 (101348224-101348314), DIO3OS (102020241-102020331), LINC00239 (102198672-102198762) , ZNF839 (102798026-102798116), RCOR1 (103173723-103194904), TNFAIP2 (103600034-103600124), TRMT61A (103996421-103996511), KLC1 (104129106-104143851), XRCC3 (104174882-104174972), TDRD9 (104431735-104500396) ASPG (104573555-10457 3645), TMEM179 (105061496-105061586), AKT1 (105238700-105242107), CEP170B (105344216-105360713), PACS2 (105821406-105851315), ELK2AP (106136002-106136092), KIAA0125 (106384211-106388972), ADAM6 (106436405-106438114 ), LINC00226 (106744369-106744860)

<Chromosome 15>

The following diseases are detectable on chromosome 15:

Prader-Willi Syndrome: Microdeletion of chromosome 15 originating from the father or chromosomal duplication resulting from both chromosome 15 from mother is caused by symptoms such as obesity, short stature, hypogonadism, mental retardation, and dystonia; The chromosomal location of chr15 is 23930553-25223729

Angelman syndrome is a major cause of micro-deletion of chromosome 15 originating from the mother. It is caused by puppet gait, puppet gait, seizure, microcephaly, hypopigmentation of iris and choroid, widely distributed teeth, Symptoms such as developmental delay; The chromosomal location is 25582393-25684189 of chr15

15q 12 Duplicate Syndrome: Causes of duplication of some chromosome 15, symptoms of autism, mental retardation, delayed onset; The chromosomal location of chr15 is 25700001-28100000

Idiopathic systemic epilepsy: Unexplained systemic epilepsy (epilepsy) is a neurological symptom caused by hyperactivity of the neurons in the cerebrum, some of which are associated with chromosome 15 microdeletion; The chromosomal location of chr15 is 33600000-40100000

On the chromosome 15, there are about 62 genes that can be detected as probes, and the specific gene positions are as follows.

MEK2P2 (20488066-20496748), HERC2P3 (20613770-20642660), TUBGCP5 (22833487-22872636), MIR450823807198-23807288, MKRN3 23811765-23811855, MAGEL2 23890799-23890889, NDN 23931457-23931547, SNRPN SNURFN (25220563-25219575), SNURF (25220535-25220625), SNRPN (25221462-25221552), SNURF (25222055-25222145), SNRPN (25222949-25223039), SNORD 107 SNORD115-12 (25423882-25423972), SNORD115-7 (25427527-25427617), SNORD115-29 (25434556-25434646), SNORD115-39 (25486888-25486978), SNORD115-12 SNR115-41 (25490620-25490710), UBE3A (25585258-25657131), ATP10A (25925964-26026313), MIR4715 (26093888-26093978), LOC100128714 (26147565-26297319), LINC00929 (26361334-26378152), GABRB3 (26806156-26866616) , GABRA5 (27112017-27185193), GABRG3 (27222178-27772722), OCA2 (28000275-28344459), APBA2 (29367119-29406194), HERC2P10 (31110226-31116974), MTMR10 (31232664-31266633), TRPM1 (31321539-31355453) MIR211 (31357244-31357334), TRPM1 (31369102-31369192), LOC283710 (31522935-31523025), OTUD7A (31779394-31851326), ARHGAP11A (32925199-32925289), SCG5 (32971996-32972086), LOC100131315 (33010861-33010951), FMN1 (33069033-33486901), TMCO5B (33528709-33538075), RYR3 (33603192-34151899), AVEN (34158633-34158723), SLC12A6 (34528263-34546714), NUTM1 (34648768-34648858), GOLGA8B (34873666-34873756), AQR (35166926-35210564), DPH6 (35663742-35663832), C15orf41 36946284-36946374), LOC145845 (37178633-37178723), FAM98B (38757492-38757582), RASGRP1 (38803818-38803908), THBS1 (39879589-39879679), EIF2AK4 (40226398-40324449), SRP14 (40331296-40331386), BMF -40398644), BUB1B (40477428-40494887), GPCRLTM7 (102388999-102389550), FAM138E (102495745-102495835), WASH3P (102506304-102516205)

<Chromosome 16>

The following diseases are detectable on chromosome 16:

Trisomy 16 mosaicism: Causes duplication of chromosome 16, may grow healthy without symptoms, various symptoms depending on the child; Chromosomal location was found in chr16 62302-90142338

16p13.11 Microdeletion syndrome: Causes microduplication of part of chromosome 16, symptoms such as learning disorder, behavioral disorder, ADHD, language developmental delay; The chromosomal location of chr16 is 14800001-16800000

16p11.2 Microdeletion Syndrome: This is caused by microdeletion of a part of chromosome 16, such as language developmental disorder, developmental delay, learning disorder, neonatal hypotonia, and autism; The chromosomal location of chr16 is 28100001-34600000

There are about 38 genes that can be detected by probes on chromosome 16, and the specific gene positions are as follows.

SNRNP25 (103898-105874), RHBDF1 (108363-108453), PARN (14540796-14721023), BFAR (14742302-14755880), DFX11L10 (62302-62392), MIR6859-2 (67040-67130), POLR3K (97222-103598) , PLA2G10 (14766460-14766550), PDXDC1 (15125632-15125722), NTAN1 (15131843-15141398), C16orf45 (15609178-15609268), KIAA0430 (15689465-15724320), NDE1 (15781255-15781345), MYH11 (15809030-15876333) FOPNL (15967371-15967461), ABCC6 (16248523-16276769), XYLT1 (17199482-17353145), IL21R (27460014-27460104), GTF3C1 (27480696-27519963), KIAA0556 (27585204-27789056), GSG1L (27800774-27800864) (28109584-28192352), ATXN2L (28836660-28845745), CD19 (28944647-28949018), MVP (29841850-29853084), ALDOA (30078576-30081634), CORO1A (30199290-30199380), ZNF689 (30621675-30621765), STX4 31044939-31051136), KAT8 (31139370-31139460), TRIM72 (31230680-31230770), LOC283914 (34598006-34624559), LOC146481 (34712379-34712469), LOC100130700 (34739577-34739667), FLJ26245 (34983125-34983215), ANKRD26P1 -46602838), SHCBP1 (46617913-46618003), PRDM7 (90123912-901423 38)

<Chromosome 17>

The following diseases are detectable on chromosome 17:

Miller-Dicker syndrome: Symptoms such as congenital defects, microcephaly, small tug, heart anomalies, growth retardation, mental retardation, convulsions, caused by microdeletion of a part of chromosome 17 and lesser wrinkles in the brain; The chromosomal location of chr17 was 6044-3300000

17p12 deletion syndrome: Caused by deletion of a part of chromosome 17, occurs in one to 20,000 to 50,000 people, may cause various neuropathic symptoms such as sensory depression and muscle weakness; The chromosomal location was found to be 10700001-16000000

Smith-Majenis syndrome: This is caused by microdeletion of a part of chromosome 17, which can occur with a frequency of 1 in 25,000 individuals, and is characterized by facial features, cognitive impairment, developmental delay, sleep disturbance, hearing loss, homologous behavior; Chromosomal location was found to be 17584786-17714766

Cullen-de Breeze syndrome is caused by microdeletion of chromosome 17, which can occur with a frequency of 1 in every 16,000 people. Symptoms such as dysthymia, feeding and feeding disorders, developmental delay, learning disorders, ; The chromosomal location was found to be 44107282-44302740

On the chromosome 17, there are about 91 genes that can be detected as probes. Specific genes are located as follows.

DOC2B (6044-31204), LOC100506371 (33886-37009), LOC100506388 (181207-181669), RNMTL1 (695212-695302), NXN (706939-707029), TIMM22 (902072-902162), ABR (908038-1012302), TUSC5 (1), (2), (3), (4), (5) (1665441-19904), RAP1GAP2 (2865941-2929403), ASPA (3379447), etc.), SERPINF2 (1648443-1658032), SMG6 (1972103-2186092), SRR (2226489-2226579), TSR1 (2235513-2235603), LOC284009 -3397743), TRPV1 (3469465-3494379), ITGAE (3631221-3680939), ALOX15 (4541882-4541972), ZFP3 (4997185-4997275), NLRP1 (5436619-5487464), ASGR1 (7080139-7080229), GPS2 7217008), CHRNB1 (7348613-7359231), PER1 (8049710-8052078), RPL26 (8286475-8286565), PIK3R6 (8707411-8741896), NTN1 (8926120-9147167), STX8 (9281937-9448601), WDR16 (9489974-9503495 ), GLP2R (9764441-9764531), PIRT (10728650-10728740), SHISA6 (11144993-11461468), DNAH9 (11603013-11837367), ZNF18 (11887427-11887517), MAP2K4 , PEG22 (15217364-15217454), PIGL (16137289), MYOCD (12607062-12656175), ARHGAP44 (12812198-12888028), HS3ST3A1 (13399217-13504653), COX10 (13980239-14111546) -16137379), MIR1288 (16185320-16185410), PIGL (16216849-16221200), CENPV (16246006-16252009), TRPV2 (16318956-16326977), RASD1 (17398293-17399504), PEMT (17408974-17485708), RAI1 17827452), SMCR5 (17681376-17681466), RAI1 (17698992-17714069), MIR6777 (17716781-17716871), TOM1L2 (17752110-17810848), LRRC48 (17876978-17907787), KCNJ18 (21308498-21319585), C17orf51 (21435139-21454644) ), FAM27L (21825426-21826342), FLJ36000 (21904091-21911291), MTRNR2L1 (22023168-22023258), MIR4522 (25620933-25621023), WSB1 (25621238-25638633), TBC1D3P5 (25745046-25745136), HDAC5 (42155879-42155969) , RUNDC3A (42386232-42386322), GPATCH8 (42552258-42552348), DBF4B (42808479-42808569), GFAP (42987584-42987674), PLCD3 (43190499-43190589), MAP3K14 (43364260-43364350), PLEKHM1 (43568142-43568232) CRHR1 (43719041-43719131), MAPT (44039788-4403 9878), KANSL1 (44108836-44249274), NSF (44788329-44788419), GOSR2 (45000591-45000681), CDC27 (45201184-45201274), C17orf57 (45405618-45405708), NPEPPS (45656871-45656961), TBX21 (45811071-45811161 , SP2 (45992614-45992704), SNX11 (46190611-46190701), SKAP1 (46423200-46423290), TTLL6 (46846381-46846471), B3GNTL1 (80901750-80992987)

<Chromosome 18>

The following diseases are detectable on chromosome 18:

Edwards syndrome: Trisomy 18 is the cause, with one in 6,000 births, with more than 90% of deaths occurring within 6 months of birth, with distinctive facial features such as small and narrow head, cleft lip and cleft lip and cleft lip, Heart and kidney malformations, severe mental retardation and developmental delays; The chromosomal location was found to be 112252-77916847

18q deletion syndrome: the deletion of part of chromosome 18, the occurrence of one out of 40,000 people, characteristic facial features such as low ears, broad ears, carp mouth shape; The chromosomal location of chr18 was 43500001-61600000

The number of genes that can be detected by probes on chromosome 18 is about 29, and the specific gene positions are as follows.

MOR8078 (112252-112342), ROCK1P1 (116835-121506), USP14 (158553-179029), ANKRD30B (14748394-14748484), LOC400644 (14946251-14965757), LOC644669 (15313789-15325949), ROCK1 (18530480-18549167), SETBP1 (42281423-42281513), SLC14A2 (42793006-43253760), SIGLEC15 (43405600-43405690), PSTPIP2 (43564414-43652231), RNF165 (44038587-44038677), ACAA2 (47313651-47313741), CCDC11 (47764979-47765069), MRO CIORF54 (51898856-51898946), WDR7 (54349952-54688073), NARS (55274741-55289103), CPLX4 (56963351-56963441), KIAA1468 (59888434-59954687), HMSD (61616566), LOC100287225 (48918474-48918564) (SEQ ID NOs: 6,162,756), SERPINB8 (61647058-61652448), LINC00305 (61765102-61765192), LOC284294 (61771352-62090542), CDH7 (63477042-63477132), RBFADN (77827236-77838989), ADNP2 (77867090-77895906), PARD6G 77916847)

<Chromosome 19>

The following diseases are detectable on chromosome 19:

19p13.2 Microdeletion: Microdeletion of chromosome 19 is caused by symptoms such as eating and feeding disorders, growth retardation, developmental disorders, language developmental disorders, aggressive behavior, intellectual deterioration, obsessive compulsive disorder, sleep disorder; The chromosomal location is 6900001-13900000 of chr19

The number of genes that can be detected by probes on chromosome 19 is about 31, and the specific gene positions are as follows.

(6954617-6981804), PNPLA6 (7605511-7621620), NDUFA7 (8376286-8376376), PRAM1 (8562641-8562731), ZNF317 (9272395-9272485), RDH8 (10127767-10127857), DNMT1 (10248551-10286300), SLC44A2 (10738593-10746194), CARM1 ZSWIM4 (13910589-13934282), RPSAP58 (23945830-24010440), ZNF726 (24097696-24116001), ZNF254 (24216269-24229078), LINC00662 (28282059), ECSIT (11618279-11618369), C19orf43 (12841623-12841713) LINC00906 (29456104-29458490), LOC100505835 (29493450-29504184), CHMP2A (59062993-59063083), LOC100131691 (59070619-59080365), MZF1 (59080658-59080962), LOC100131691 (59081742-59081832), MZF1 (59082533- 59082623), LOC100131691 (59083228-59084112), MZF1 (59084636-59084726)

<Chromosome 20>

The following diseases are detectable on chromosome 20:

Alainic Syndrome: Microdeletion of chromosome 20 is the cause, persistent jaundice and cholestatic symptoms in the neonatal period, may progress to chronic liver disease, cirrhosis and liver failure in childhood; The chromosomal location is 10618331-10654693 of chr20

The number of genes that can be detected by probes on chromosome 20 is about 26, and the specific gene positions are as follows.

DEFB125 (68334-77015), DEFB126 (123215-126268), DEFB127 (138127-139654), DEFB128 (168597-170284), DEFB129 (207897-210267), ANKEF1 (10015794-10015884), SNAP25 (10084943-10287466), MKKS (10388274-10401336), SLX4IP (10415981-10602057), JAG1 10619422-10629777, MIR6870 10630268-10630358, JAG1 10630906-10644681, LOC339593 11248373-11248463, BTBD3 11898836-11900470, SPTLC3 FAM 182B (25752469-25755890), FAM182A (26061867-26061957), NCOR1P1 (26084134-26094640), LOC284801 (26168018-26172863), FRG1B (29611944), ISM1 (13218366-13218456), ZNF337 (25667080-25667495) -29633997), MLLT10P1 (29637815-29637905), DEFB115 (29845468-29845558), OPRL1 (62716390-62716480), MYT1 (62795914-62844988)

<Chromosome 21>

The following diseases are detectable on chromosome 21:

Down syndrome: the most frequent genetic disease of chromosome 21, which is one in three more, and one in every 600 to 800 people; The chromosomal location of chr21 was 42600000-48081824

The number of genes that can be detected by probes in chromosome 21 is about 22, and the specific gene positions are as follows.

MAGE 3687 (9826187-9826277), TEKT4P2 (9907765-9968599), TPTE 10906846-10910397, BAGE2 11020834-11058286, BAGE 11059726-11089792, ANKRD30BP2 14410570-14439315, POTED 14982739-14982829, DSCAM (41416058-42064854), PLAC4 (42552117-42552207), LINC00479 (43135873-43135963), UMODL1 (43483150-43536084), RSPH1 (43905801-43905891), HSF2BP (45050224-45050314), RRP1 (45217839-45217929), PWP2 (47882364-47882454), PRMT2 (48056359), &lt; RTI ID = 0.0 &gt; PRMT2 &lt; / RTI &gt; (48056359), LRRC3 (45870975-45871065), ADARB1 (46591517-46591607), COL18A1 (46895374-46917589), COL6A1 (47404238-47420722) -48081824)

<Chromosome 22>

The following diseases are detectable on chromosome 22:

Cytogenetic syndrome: Causes of overlapping of chromosome 22, characteristic eye abnormalities; The chromosomal location of chr22 is 14700000-25900000

22q11.2 Duplicate Syndrome: Caused by micro-redundancy of a part of chromosome 22, depending on the amount of duplicated genetic information; The chromosomal location of chr22 is 17900000-25900000

Bello-cardio-facial syndrome: Microdeletion of a part of chromosome 22 is caused by symptoms of heart disease, phonation disorders due to palatal malformations, hypocalcemia, feeding and eating disorders, learning disorders, immunodeficiency; The chromosomal location of chr22 is 17900001-21500000

DiGeorge syndrome: Microdeletion of a part of chromosome 22, clinical symptoms due to lack of thyroid, parathyroid, and thymus development; Chromosomal location was found in 1974-225-19771115

22q11.2 Distal deletion syndrome: a disease caused by microdeletion of a part of chromosome 22, deletion of a site other than the site of the diogenesis syndrome; The chromosomal location of chr22 is 21900001-25900000

Feller-McDermid syndrome: Caused by microdeletion of a part of chromosome 22, delayed development and moderate to severe intellectual disability, muscle weakness, autism, aggressive tendency, and insensitivity to pain; The chromosomal location is 37600001-51304566 of chr22

The number of genes that can be detected by probes in chromosome 22 is about 54, and the specific gene positions are as follows.

BMS1P18 (16162181-16162271), POTEH (16256459-16277861), CCT8L2 (17072629-17072719), ANKRD62P1-PARP4P3 (17134737-17140848), HSFY1P1 (17308612-17308702), IL17RA (17578715-17588682), LOC100996342 (17602662-17612794) , CECR1 (17661028-17702725), CECR2 (17956631-18018272), TUBA8 (18604312-18604402), PRODH (18900950-18901040), CLTCL1 (19167189-19230423), 42252 (19706104-19706194), SEPT5-GP1BB (19707865-19710571 ), TBX1 (19744202-19771019), GNB1L (19776163-19799934), C22orf29 (19836790-19836880), GNB1L (19841969-19842059), TXNRD2 (19882972-19918632), COMT (19951140-19951230), KLHL22 (20796220-20800891) , AIFM3 (21328056-21331236), LZTR1 (21337302-21350143), P2RX6P (21396647-21396737), TOP3B (22316842-22327082), ZNF280B (22862113-22862203), BCR (23615249-23637321), RGL4 (24036008-24041242) CABIN1 24434807-24572206, GGT5 24621522-24621612, UPB1 24909327-24909417, GUCD1 24942882-24942972, SGSM1 25240856-25291269, ADRBK2 26081131-26114325, MYO18B 26173604-26426753, SEZ6L (26709754-26709844), ASPHD2 (26829867-26829957), K CTD17 (37455370-37455460), TMPRSS6 (37465203-37492766), IL2RB (37523339-37540230), C1QTNF6 (37576511-37576601), SSTR3 (37602032-37602122), DNAL4 (39176927-39177017), RBX1 (41347370-41347460) (41907881-41919934), SREBF2 (42263014-42276903), SCUBE1 (43604109-43687164), LINC00229 (45021203-45021293), SMC1B (45755716-45804730), TBC1D22A (47188400-47393612), PIM3 (50356380-50356470), DENND6B 50752623-50755807), SHANK3 (51113532-51171658), RABL2B (51207869-51220742)

&Lt; Sex chromosome: X or Y chromosome >

Related diseases that can be detected on the X chromosome and / or the Y chromosome are as follows.

Kleinfelder syndrome: 47, XXY karyotype is one more chromosomal abnormality of X chromosome than normal, and is one of the most common causes of male hypogonadism, with a large number of taller, lower gonadal function, relatively smaller testicles and penis Pregnancy symptoms such as gynecomastia, mostly infertility; The chromosomal location is 2700122-154774828 of chrX

X Contamination color: 49, XXXXX A sex chromosomal disorder with five X chromosomes as a karyotype. The phenotype is female. It may show various symptoms such as decreased muscle tone and developmental delay, but genital development is normal; The chromosomal location is 2700122-154774828 of chrX

X syndrome: 48, XXXX Sex chromosomal anomalies with four X chromosomes as karyotypes, symptoms and symptoms vary from person to person and include symptoms such as language developmental disabilities, learning disabilities, and ovarian dysfunction; The chromosomal location is 2700122-154774828 of chrX

Triple X syndrome: a sex chromosomal disorder with three X chromosomes, a common chromosomal disorder that occurs in one out of every 1,200 girls, a slightly smaller head, a taller, lower body, and a slightly lower intelligence existence; The chromosomal location is 2700122-154774828 of chrX

Turner's syndrome: A sex chromosome that should be present as XX or XY occurs as a single chromosome X, occurs at a frequency of 1 in every 2,500 to 3,500 babies, is short in height, short in throat, and has symptoms such as delayed sexual development; The chromosomal location is 2700122-154774828 of chrX

XXXY syndrome: 48, XXXY Kleinfelder syndrome with a karyotype, low blood testosterone levels, incomplete menstruation, incomplete breast, mostly infertile, characteristic tooth shape; The chromosomal location is 2700122-154774828 of chrX

XXYY syndrome: 48, XXYY One of the karyotypic island chromosomal aberration syndrome, occurring in one out of 40,000 births, similar to Klinefelter syndrome, but may be more severe; The chromosomal location is 2700122-154774828 of chrX or 2653793-27603606 of chrY

Xq28 Duplicate Syndrome: X chromosome is caused by partial overlap of the long arm, symptoms such as dysthymia, language developmental disorder, learning disorder, short stature, convulsions; The chromosomal location was found to be 147,1001,1547,74828

Glycerol kinase deficiency: Due to the microdeletion of some of the X chromosome, the concentration of glycerol in the blood increases, resulting in a caustic increase in triglyceride concentration; symptoms such as short stature, low ears, latent testis; The chromosomal location is 30671475-30749578 of chrX

Duchenne Muscular Dystrophy: It is caused by microdeletion of a part of X chromosome. Duchen form is the most severe and poor condition in progressive muscular dystrophy. Muscle necrosis and muscular weakness are caused. Lt; / RTI &gt; The chromosomal location was found to be 31137344-33357725

Xp11.2 Duplicate Syndrome: Symptoms such as developmental delay, learning disability, ADHD, language developmental delay, and precocious puberty due to the overlap of some X chromosomes; The chromosomal location of chrX is 46400001-58100000

Steroids Sulfatase syndrome: An X chromosome-related recessive disorder characterized by severe sulcus on skin due to steroid sulphatase deficiency and sensitive to mild stimuli; The chromosomal location is chrX 7065297-7272681

Kalman syndrome is caused by microdeletion or mutation of the X chromosome, malformations of the olfactory brain and hypothalamus can result in male and female reproductive system stimulating hormone secretion, secondary sexual malformation and infertility; Chromosomal locations are 8496914-8700226

XYY syndrome: 47, XYY karyotype is a type of hyper male syndrome, tall, intelligent most of the normal, but attention deficit hyperactivity disorder or learning disorder also possible, mostly reproductive function is normal; The chromosomal location was chrY 2653793-27603606

XYYY syndrome: also referred to as Triple Y syndrome or hyper male syndrome, symptoms or symptoms vary from child to child, aggressive tendency, learning disability may be accompanied, and sometimes cause infertility; The chromosomal location was chrY 2653793-27603606

Sweeding syndrome: Y-chromosomes are caused by microdeletion of genes important for testis formation. Even though the testis is not formed and the chromosome is male, XY, the uterus and fallopian tube, which are internal genitalia of female, may form, Because it is absent, it shows the appearance of female with moon syndrome; The chromosomal location is chrY 2653793-2656883

Amenorrhea: Y-chromosome is caused by microdeletion, there is no germ cell in the cleansing tube, and only supporting cells are present, causing amenorrhea and causing male infertility; 14811160-14974768 or 25275501-27053187 of chrY

There are about 57 genes that can be detected as probes in the X chromosome, and the specific gene positions are as follows.

XG (2700122-2733277), PRKX (3539283-3539373), LOC389906 (3736467-3736766), NLGN4X (5947352-6145854), MIR4770 (6301930-6302020), STS (7137554-7252132), VCX (7810294-7810384), PNPLA4 (7867786-7895798), MIR651 (8095009-8095099), KAL1 (8502385-8667807), FAM9A (8759325-8769374), TBL1X (9622263-9686065), GPR143 (9711614-9728856), SHROOM2 (9859037-9905494), IL1RAPL1 MAGEB16 (35816520), &lt; RTI ID = 0.0 &gt; MAGEB16 &lt; / RTI &gt; (35816520) -35816610), CXorf22 (35937963-35993954), KDM6A (44733156-44941898), LOC101927528 (45369746-45369836), MIR222 (45606430-45606520), KRBOX4 (46306657-46306747), ZNF674 (46404948-46405038), RGN PORCN (48370997-48374354), GLOD5 (48624263-48624353), SLC35A2 (48763699-48763789), PRAF2 (48931541-48931631), CCNB3 (50031788-50085314), SNORA11C (47248067-47248157), CFP (47486590-47486680) ), MAGED1 (51636729-51643380), PHF8 (53964351-54069203), FAAH2 (57313234-57475098) ), SPIN4 (62569117-62569207), LOC92249 (62647604-62780837), ARHGEF9 (62856423-62894027), FMR1 (147003432-147018122), AFF2 (147800640-148062339), FATE1 (150889875-150889965), ZNF185 (152085649-152134076) , PNCK (152937359-152937449), IDH3G (153051812-153056069), NAA10 (153199380-153199470), IRAK1 (153281470-153284758), DNASE1L1 (153633167-153633257), FAM3A (153735734-153735824), GAB3 (153908422-153944497) MPP1 (154014502-154014592), FUNDC2 (154279965-154280055), CLIC2 (154528207-154563919), TMLHE (154719957-154774828)

In addition, about 20 genes can be detected as probes on the Y chromosome, and specific gene positions are as follows.

SRY 2653793-2656883, RPS4Y1 2709600-2734960, ZFY 2803254-2844832, LINC00278 2871102-2871192, TGIF2LY 3447102-3447192, PRKY 7193878-7235565, U94385 9383758-9384126, RBMY3AP (9448360-9452775), TTTY22 (9642393-9647743), GYG2P1 (14518061-14532228), TTTY15 (14774422-14801817), USP9Y (14813526-14969583), DDX3Y (15016127-15029429), UTY (15409612-15481227), RPS4Y2 (234545242-23548126), CHRY (23761978-23763837), RBMY1F (24457105-24460955), DAZ3 / 4 (25286793-27047349), GOLGA2P2Y (27603516-27603606), AK026367

As described above, the sequencing data obtained using the target NGS method are processed in parallel and integrated, thereby covering more than 1200 disease-related genes. Through the analysis, 80 kinds of genes such as aneuploidy, microdeletion, It can detect major developmental disorder-related diseases.

FIG. 6 is a block diagram of a chromosome abnormality detection system according to an embodiment of the present invention.

Referring to FIG. 6, a chromosome anomaly detection system 100 according to an embodiment of the present invention includes a data obtaining unit 110 for obtaining sequencing data obtained by target sequencing in a sequencer 10, A data processing unit 120 for checking the quality of the sequencing data and processing the sequenced data having the confirmed quality, and a variation detector 130 for analyzing the processed sequencing data to detect a variation . The chromosome abnormality detection system 100 further includes an information analysis unit 140 for analyzing the information of the various mutations detected by the mutation detection unit 130 and confirming the relevant disease, the mutation detection unit 130 and the information analysis unit 140, A medical institution 20 or a sponsor (not shown) that conducts consultation based on the information obtained from the variation detector 130 and the information analyzer 140, And an information transfer unit 160 for transferring the information.

The data acquisition unit 110 acquires sequencing data obtained by target sequencing in the sequencer 10 which is a platform capable of next generation sequencing (NGS). For example, the data acquisition unit 110 can acquire the sequencing data obtained by using the target panel generated by capturing and amplifying 3400 or more areas in the dielectric extracted from the specimen.

The data processing unit 120 confirms the quality of the sequenced data and processes the sequenced data having the confirmed quality. For example, the data processing unit 120 may apply a phred score of 20 so that a base having a base score of 20 or lower may be classified into a base sequence having a length of 25 bp or more, And can sequentially perform data sorting, data formatting, data sorting, and the like.

The variation detection unit 130 analyzes the sequencing data processed by the data processing unit 120 to detect a variation, and detects first sequencing data derived from a target area of the target sequencing, and second sequencing data derived from a non- The mutation can be detected using the sequencing data.

Specifically, the variation detecting unit 130 analyzes the first sequencing data to detect a variation at the exon size level, analyzes the second sequencing data to detect a variation at a level of 400 to 600 kb, Sequencing data can be analyzed to detect mutations at chromosome size levels. Accordingly, the variation detecting unit 130 may include three or more lower modules. For example, the transition detection unit 130 may include first to third detection modules 132, 134, and 136, and the first detection module 132 may analyze the first sequencing data, And the second detection module 134 may detect the CNV in a wider dielectric region of 400 to 600 kb in size by analyzing the second sequencing data and the third detection module 136 may detect CNV Can analyze Loss of Heterozygosity (LOH) and UPD (Uniparental Disomy) in the chromosomal region by analyzing the first and second sequencing data.

Through this, it is possible to quickly and accurately check the abnormality of the chromosome by analyzing the sequenced data obtained by the target NGS sequencing in parallel and analyzing them in an integrated manner. Here, the variation detecting unit 130 may analyze the first sequencing data with the CONTRA algorithm, analyze the second sequencing data with the CopywriteR algorithm, and analyze the first and second sequencing data with the BAF analysis algorithm, respectively.

The information analyzing unit 140 analyzes the information of the various kinds of mutations detected by the deviation detecting unit 130 to check the related diseases and generate a report thereon. For example, the information analysis unit 140 may derive a related genetic disease associated with an abnormality of a chromosome detected by the detection unit 130, generate an associated reporting report, and transmit it to the medical institution 20 through the information delivery unit 150. [ Or to the requestor of the inspection. The report prepared by the information analysis unit 140 may include the related diseases examined among the 80 related diseases shown in FIGS. 5A to 5D, and detailed information about the related diseases when they are related.

The database unit 150 stores various kinds of information obtained from the variation detector 130 and the information analyzer 140 and the like. The database unit 150 may include at least three sub-modules to increase the efficiency and convenience of information storage and retrieval. For example, the database unit 150 may include first to third storage modules 152, 154 and 156, and the first storage module 152 may include a data acquisition unit 110, a data processing unit 120, The second storage module 154 may store the information obtained from the variation detector 130 and the third storage module 156 may store the information obtained from the information analysis unit 140 . The database unit 150 is a logical or physical storage server for storing information such as an Oracle DBMS of Oracle, an MS-SQL DBMS of Microsoft, a database of Sybase, SYBASE DBMS, etc., but the present invention is not limited thereto.

The information transferring unit 160 transfers the examination results to the medical institution 20 or the requester (not shown) that conducts consultation based on the information obtained from the side detection unit 130, the information analysis unit 140, and the like. For example, the information transferring unit 160 may transmit the examination results and related information obtained from the chromosomal aberration testing system 100 to a server of the medical institution 20 or a portable terminal (not shown) of the examination requester.

FIG. 7 is a diagram illustrating a concept of a healthcare service using the chromosome abnormality detection system of FIG.

Referring to FIG. 7, the chromosome abnormality detection system 100 transmits a test result and related information to a server (not shown) of the medical institution 20 and / or a terminal 30 of the requester 31 via the network 50 . The medical institution 20 diagnoses a disease caused by a chromosomal abnormality based on the test result and related information transmitted from the chromosomal abnormality testing system 100 and transmits the diagnosis result to the terminal 30 of the requester 30 through the network 50 ). In general, the sponsor 30 may be a parent of a newborn baby who collects blood, but may be a person exercising parental rights of a newborn baby such as a legal representative.

In addition, the chromosome abnormality detection system 100 can provide customized genetic information to the terminal 30 of the requester 30 for continuous health management of the newborn baby. The requester 31 can confirm the customized genetic information from the terminal 30. The terminal 30 may comprehensively mean all wired and wireless home appliances / communication devices having a user interface for connecting to the network 50, and may be an information communication device such as a computer, a notebook computer, etc., have. For example, the terminal 30 can be a smartphone, and can display customized genetic information in real-time on an app of a smartphone. Through the app of the smartphone, it is possible to provide health and newborn-related contents to the requester 31, and the child care information and the like can be recorded using the app of the smartphone.

Meanwhile, the method and system for examining a chromosome abnormality according to an embodiment of the present invention can be implemented as a single module by means of software and hardware, and the embodiments of the present invention described above can be made into a program that can be executed in a computer, The present invention may be embodied in a general-purpose computer that operates the program using a recording medium readable by the computer. The computer-readable recording medium is implemented in the form of a carrier wave such as a ROM, a floppy disk, a magnetic medium such as a hard disk, an optical medium such as a CD or a DVD, and a transmission through the Internet. In addition, the computer-readable recording medium may be distributed to a network-connected computer system so that computer-readable codes may be stored and executed in a distributed manner.

The components or parts used in the embodiments of the present invention may be software such as a task, a class, a subroutine, a process, an object, an execution thread, a program, field-programmable gate array (ASIC), or an application-specific integrated circuit (ASIC), or a combination of the above software and hardware. The components or parts may be included in a computer-readable storage medium, or a part of the components may be distributed to a plurality of computers.

While the present invention has been described in connection with what is presently considered to be practical exemplary embodiments, it is to be understood that the invention is not limited to the disclosed embodiments, but, on the contrary, You will understand. It is therefore to be understood that the above-described embodiments are illustrative in all aspects and not restrictive.

100: Chromosome aberration system
110: Data acquisition unit 120: Data processing unit
130: side detection unit 140: information analysis unit
150: Database part 160: Information transfer part

Claims (10)

Acquiring sequencing data by target sequencing a dielectric extracted from a specimen;
Confirming the quality of the sequenced data;
Processing the sequenced data with the confirmed quality; And
Analyzing the processed sequencing data to detect a variation, analyzing first sequencing data derived from a target region of the target sequencing, detecting a copy number variation (CNV) by a variation at an exon size level, (CNV) by analyzing the second sequencing data derived from the non-target region of the chromosome size level, and analyzing the first and second sequencing data, And detecting LOS (Loss of Heterozygosity) and UPD (Uniparental Disomy) by mutation, respectively. The method according to claim 1,
Wherein the obtaining of the sequencing data comprises:
And subjecting the genome extracted from the blood drawn from the newborn baby to a target sequence. The method according to claim 1,
Wherein the obtaining of the sequencing data comprises:
Capturing and amplifying at least 3400 regions in the dielectric extracted from the specimen to generate a target panel. The method of claim 3,
Wherein the obtaining of the sequencing data comprises:
Acquiring the first sequencing data by sequencing the target area corresponding to the captured area of the target panel with at least 3400 probes and sequencing the non-target area excluding the target area to acquire the second sequencing data / RTI &gt; wherein the chromosomal anomalous test method comprises the steps of: 5. The method of claim 4,
The step of detecting the mutation, respectively,
And analyzing the first sequencing data of 300 to 320 kb. delete delete A data acquiring unit acquiring sequencing data obtained by target sequencing in a sequencer;
A data processing unit for checking the quality of the sequenced data and processing the sequenced data having the confirmed quality; And
And a variation detector for analyzing the processed sequencing data to detect a variation,
The mutation detection unit detects the mutation using the first sequencing data derived from the target region of the target sequencing and the second sequencing data derived from the non-target region of the target sequencing, and analyzes the first sequencing data (CNV) is detected by a variation at an exon size level, and the second sequencing data is analyzed to detect a copy number variation (CNV) by a variation at a level of a size of 400 to 600 kb, Analyzing the second sequencing data to detect Loss of Heterozygosity (LOH) and UPD (Uniparental Disomy) by mutation at the chromosome size level. 9. The method of claim 8,
Wherein the data obtaining unit comprises:
A chromosomal anomaly detection system that captures and amplifies over 3400 regions in a genome extracted from a specimen and obtains sequencing data obtained using the target panel generated by amplification. delete

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