CN108384789A - With the TYR genes after the relevant mutation of 1 type of eye skin albinism and its purposes in gene diagnosis - Google Patents
With the TYR genes after the relevant mutation of 1 type of eye skin albinism and its purposes in gene diagnosis Download PDFInfo
- Publication number
- CN108384789A CN108384789A CN201810444229.2A CN201810444229A CN108384789A CN 108384789 A CN108384789 A CN 108384789A CN 201810444229 A CN201810444229 A CN 201810444229A CN 108384789 A CN108384789 A CN 108384789A
- Authority
- CN
- China
- Prior art keywords
- mutation
- primer
- type
- disease
- tyr
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Granted
Links
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
The invention discloses with the TYR genes after the relevant mutation of 1 type of eye skin albinism and its purposes in gene diagnosis.The present invention judges that its disease is transmitted in family for autosomal recessive inheritance mode by being acquired to 4 generation eye skin albinism, a 1 type family.By reading document and online database, the candidate gene that may be caused a disease is chosen, then propositus and other members of family progress PCR amplification and Sanger are sequenced, confirm mutant gene locus.Wherein find the mutation of TYR Disease-causing genes c.107G>C is a kind of new disease cause mutation.The discovery in the new TYR Disease-causing genes mutational site, enriches the Disease-causing gene spectrum of mutation, can be as the pre-natal diagnosis screening site of this serious recessive hereditary disease of 1 type of eye skin albinism, the guidance of the prenatal and postnatal care for group.The it is proposed of the present invention provides data support to develop the design for the pre-natal diagnosis chip for being directed to the mutation type, is especially of great significance to the prenatal gene diagnosis screening of the rare hereditary disease of serious harm.
Description
Technical field
The present invention relates to the TYR genes after the relevant mutation of 1 type of eye skin albinism, further relate to the gene and examined in gene
Purposes in disconnected, the invention belongs to pharmaceutical technology fields.
Background technology
Albinism (ICD-10：E70.301 it is) a kind of skin caused by tyrosinase lacks or hypofunction and attached
Belong to the heredity Leucoplakia caused by organ short of melanin or dyssynthesis.Patient's retina non-pigment, iris and pupil are in
Existing pale pink, keeps in dark place.Skin, eyebrow, hair and other chaetas are all white or yellow-white.Albinism belongs to Familial Occurrence disease
Disease, for autosomal recessive inheritance, in the crowd for often betiding consanguineous marriage.Albinism genetic map：Patient parents carry
Albefaction ospc gene, itself does not fall ill.If entrained Disease-causing gene is transmitted to children by Mr. and Mrs both sides simultaneously, children will suffer from
Disease.Melanin in normal human is synthesized by melanocyte, there is melanosome in melanocyte, it contains tyrosinase,
Tyrosine can be transformed into melanin by this enzyme.Melanocyte number is normal in albino's body, also there is melanocyte into the cell
Corpusculum, but since the gene of control tyrosinase mutates, it is unable to synthetic hydroxyphenylaminopropionic acid enzyme, then tyrosinase in melanosome
Lack, tyrosine cannot be made to be transformed into melanin, so as to cause albefactions such as skin, mucous membrane, hair, eyes.
Albinism is divided into three categories other according to clinical phenotypes feature：(1) ocular albinism (ocular albinism, OA), disease
People's only ommochrome reduces or lacks, and has different degrees of low vision, the symptoms such as photophobia, external population risk is about 1/
60,000；(2) eye skin albinism (oculocutaneous albinism, OCA), except ommochrome lacks and low vision, fear
Outside the symptoms such as light, patient skin and hair have apparent achroa, and foreign countries' report incidence is 1/20,000~1/10,000；
Eye skin albinism can be divided into four types (OCA1~OCA4) according to the difference of Disease-causing gene again, in China, OCA1 and OCA2 compared with
It is common.(3) albinism related syndromes, patient with a degree of eye skin albinism in addition to showing, and also other are special
It is fixed abnormal, as and meanwhile there is the Chediak-Higashi syndromes of immunologic hypofunction and with hemorrhagic diathesis
Hermansky-Pudlak syndromes, this kind of disease are more rare.
OCA1 is caused by TYR (Homo sapiens tyrosinase) gene mutation.The mankind TYR assignments of genes gene mapping in
11q14.3, overall length are about 124,888bp, including 5 exons and 4 intrones.TYR derives from the high and steep cell of embryo's nerve, is
The key enzyme of melanin genesis.It can be divided into amphitypy according to whether tyrosinase activity completely loses OCA1：OCA1A and OCA1B, the two
It cannot be distinguished at birth.OCA1A patient's tyrosinase activity completely loses, and is the type of most serious, patient skin and eyes
Pigment lacks completely, and visual acuity drops to 5%.OCA1B patient's body tyrosinase activities are decreased obviously, but not yet completely
Missing, patient skin, hair and ommochrome can increase with the age and be increased, and can be tanned.The present invention relates to one with
The associated Disease-causing gene mutational site of OCA1 types and its application, belong to cma gene diagnostic field.
Eye skin albinism Disease-causing gene TYR of the present invention passes through NCBI data platforms (https：//
Www.ncbi.nlm.nih.gov/ it) searches analysis to obtain, the sequence length of the Disease-causing gene is 124,888bp, TYR gene positions
In 11q14.3, including 5 exons, mRNA length is 2,082bp, and coding peptide chain length is 529aa (GRCh38.p7；NM_
000372.4；NP_000363.1).PCR amplification sequencing is carried out by the TYR gene extrons to eye skin albinism propositus,
It was found that there are compound heterozygous mutations sites for the gene, to family, other members are further detected later, confirm TYR genes
Sport the pathogenesis for causing the family 1 type of eye skin albinism occur.The present invention is to illustrating the hair of 1 type of eye skin albinism
Interpretation of the cause, onset and process of an illness system, enriches the Disease-causing gene spectrum of mutation of 1 type of eye skin albinism, and establishes this rare hereditary disease gene diagnosis method
It is of great significance.
Invention content
The purpose of the present invention is to provide a kind of TYR containing with the relevant novel mutation site of 1 type of eye skin albinism
Gene and its purposes in gene diagnosis.
In order to achieve the above object, present invention employs following technological means：
The present invention draws pedigree to judge mode of inheritance by collecting 1 type family information of eye skin albinism.By to suffering from
On person and family other member's peripheral blood extracting genome DNAs, PCR amplification and Sanger sequencing detection candidate disease causing genes TYR
Mutational site, come finally confirm Disease-causing gene and mutational site.
1,1 type patient's family of eye skin albinism is collected
It is (outer to 1 type patient of eye skin albinism and other individual progress living resources of family according to the principle of informed consent
All blood) collection and family essential information acquisition.Family collection of illustrative plates is drawn, judges heredity of 1 type of eye skin albinism in family
Mode.
2,1 type Disease-causing gene of gene diagnosis DNA analysis eye skin albinism is mutated
By to 1 type patient of eye skin albinism and family other member's peripheral blood extracting genome DNAs, causing a disease to candidate
The mutational sites gene TYR design primer, and patient and other members of family progress PCR amplification and Sanger are sequenced, it compares and divides
Analysis confirms Disease-causing gene mutational site.After testing, propositus (II 5) is detected in 4 generation eye skin albinism, the 1 type family
And its there is a point mutation respectively in younger brother (II 7) TYR exon 1s and intron 2, i.e. on No. 11 chromosomes,
chromsome11：(c.107G 89178060 sites sport C by G>C, p.C36S) and No. 11 chromosomes on,
chromsome11：(c.1037-7T 89227816 sites sport A by T>A).Wherein c.107 site mutation causes encoding gene
The amino acid of TYR becomes serine (Ser) (GRCh38.p7 from cysteine (Cys)；NM_000372.4；NP_000363.1)；
C.1037-7 site mutation causes the mutation of gene TYR mRNA shearing sites.The niece of mother (I 2) and propositus of propositus
(III 6) it is heterozygote, mother (I 2) carrying is c.107G>C.1037-7T C site mutations, niece (III 6) carry>The sites A are prominent
Become.And the mutation in the two sites does not occur normally in remaining per capita.In the two sites, c.107G>C site mutations are a kind of
New disease cause mutation has no document report, theoretically with c.1037-7T>It is to cause the family that the sites A, which form compound heterozygous mutations,
It is the pathogenic factor of patient.
On the basis of the studies above, the present invention proposes a kind of TYR with after the relevant mutation of 1 type of eye skin albinism
Gene, the TYR genes after the mutation contain following mutational site：c.107G>C, the core of the TYR genes after the mutation
Nucleotide sequence is as shown in SEQ ID NO.1.
In addition, the invention also provides another TYR genes with after the relevant mutation of 1 type of eye skin albinism, it is described
Mutation after TYR genes contain following mutational site：c.107G>C and c.1037-7T>A.
Further, the invention also provides the PCR primer for detecting the TYR genes after the mutation, institute is used
Contain the mutational site in the segment that the primer amplification stated obtains.
In the present invention, it is preferred to, the PCR primer for detecting the TYR genes after the mutation is drawn using described
The mutational site there are one containing respectively in the segment that object expands, it is preferred that for detecting c.107G>The mutational sites C
Primer be made of sense primer and downstream primer, the nucleotide sequence of the sense primer is as shown in SEQ ID NO.2, institute
The nucleotide sequence for the downstream primer stated is as shown in SEQ ID NO.3；For detecting c.1037-7T>The primer in the mutational sites A by
Sense primer and downstream primer composition, the nucleotide sequence of the sense primer is as shown in SEQ ID NO.4, the downstream
The nucleotide sequence of primer is as shown in SEQ ID NO.5.
Further, the invention also provides the TYR genes after the relevant mutation with 1 type of eye skin albinism
Purposes in preparing 1 type gene diagnosis reagent of eye skin albinism.And the primer is preparing 1 type of eye skin albinism
Purposes in gene diagnosis reagent.
Compared to the prior art, the beneficial effects of the invention are as follows：
Present invention obtains one with the relevant novel Disease-causing gene mutational site of 1 type of eye skin albinism c.107G>C,
Enrich the Disease-causing gene spectrum of mutation, the discovery in the mutational site can carry out its family offspring prenatal and postnatal care guidance, and can be with
As the pre-natal diagnosis screening site of this serious recessive hereditary disease of 1 type of eye skin albinism, it to be used for the prenatal and postnatal care of group
Guidance.The it is proposed of the present invention provides data support to develop the design for the pre-natal diagnosis chip for being directed to the mutation type,
Especially it is of great significance to the prenatal gene diagnosis screening of the rare hereditary disease of serious harm.
Description of the drawings
Fig. 1 is family tree figure to judge mode of inheritance of 1 type of eye skin albinism in family；
Wherein, black symbols indicate existence situation；Oblique line expression has been passed away；
Fig. 2 is PCR product sequencer map, indicates propositus (II 5) TYR genes c.107 site G/C heterozygosis；
Fig. 3 is PCR product sequencer map, indicates younger brother propositus (II 7) TYR genes c.107 site G/C heterozygosis；
Fig. 4 is PCR product sequencer map, indicates mother propositus (I 2) TYR genes c.107 site G/C heterozygosis；
Fig. 5 is PCR product sequencer map, indicates that c.107 site is bases G to niece propositus (III 6) TYR genes.
Specific implementation mode
The invention will now be further described with reference to specific embodiments, but the embodiment is merely to illustrate the present invention, not
Any restrictions are constituted to protection scope of the present invention.It will be understood by those skilled in the art that in the essence without departing from the present invention
Can the details and form of technical solution of the present invention be modified or be replaced under god and range, but these modifications and replacement are fallen
Enter in protection scope of the present invention.
Embodiment 1
1,1 type patient's family of eye skin albinism is collected
According to the principle of informed consent, northern area 4 generation eye skin albinism 1 type (OCA1) family is collected, is first demonstrate,proved
Person (II 5), male 58 years old, are mainly shown as eye, skin, hair short of melanin and low vision, photophobia, nystagmus
Deng.Pedigree is drawn, autosomal recessive inheritance mode (Fig. 1) is presented in family.Collect sample include 2 patients in family (II 5,
7) and the peripheral blood sample of 4 phenotype normal individuals (I 2, II 1, III 1, III 6) II, and related essential information and clinical data
Deng, and numbered (father propositus I 1 is dead, therefore can not acquire its biological sample).
2, gene diagnosis DNA analysis eye skin albinism Disease-causing gene is mutated
By peripheral blood in patients extracting genome DNA, the exon sequencing of TYR genes is carried out, candidate disease causing genes TYR is obtained
c.107G>The sites C sport C by G, and c.1037-7T>The sites A sport A (GRCh38.p7) by T.To the pathogenic base of candidate
Because of mutational site design primer, c.107 site primer is：
5'-GAAGAATGCTCCTGGCTGTTTTG-3 ' (shown in SEQ ID NO.2)
5'-CTCACGGGGTCTCTTCCTGTTTA-3 ' (shown in SEQ ID NO.3)
C.1037-7 site primer is：
5'-AAAAGATCTGCTATGAGTGTTGTT-3 ' (shown in SEQ ID NO.4)
5'-GTGAATGACCCTATCGCCTAC-3 ' (shown in SEQ ID NO.5)
To patient and family, other individuals carry out PCR amplifications, and reaction condition is 94 DEG C, 5min；94 DEG C, 30s, 57.5
DEG C, 30s, 72 DEG C, 1min, 30 cycles；72 DEG C, 10min；C.107 locus products size 405bp, c.1037-7 locus products are big
Small 410bp.PCR product carries out Sanger sequencings later, compares analysis, finds two of patient (II 5, II 7) containing TYR genes
A mutational site：c.107G>C and c.1037-7T>C.107G A, mother propositus (I 2) carry>C site mutations are (after mutation
TYR genes nucleotide sequence as shown in SEQ ID NO.1), niece propositus (III 6) carry c.1037-7T>The sites A are prominent
Become.Other individual (I 2, II 1, III 1) do not contain the mutation on the two positions, and (father propositus I 1 is dead, therefore does not examine
Measure its hereditary information), propositus (II 5), younger brother propositus (II 7), mother propositus (I 2) and niece propositus (III 6)
TYR gene PCR product sequencer maps it is as shown in Figure 2-5.
In the two sites, c.107G>C site mutations are a kind of new disease cause mutations, the discovery in this mutational site,
Genetic test can be carried out to offspring individuals in its family, to judge that infant onset risk is educated in its regeneration, and antenatal examine can be carried out
It is disconnected, prenatal and postnatal care guidance is carried out to it.To the Disease-causing gene spectrum of mutation of abundant OCA1, and gene diagnosis method is established with important
Meaning.
Sequence table
<110>Harbin Medical University
<120>With the TYR genes after the relevant mutation of 1 type of eye skin albinism and its purposes in gene diagnosis
<160> 5
<170>Patent-In 3.5
<210> 1
<211> 2000
<212> DNA
<213> homo
<400> 1
atgctcctgg ctgttttgta ctgcctgctg tggagtttcc agacctccgc tggccatttc 60
cctagagcct gtgtctcctc taagaacctg atggagaagg aatgctctcc accgtggagc 120
ggggacagga gtccctgtgg ccagctttca ggcagaggtt cctgtcagaa tatccttctg 180
tccaatgcac cacttgggcc tcaatttccc ttcacagggg tggatgaccg ggagtcgtgg 240
ccttccgtct tttataatag gacctgccag tgctctggca acttcatggg attcaactgt 300
ggaaactgca agtttggctt ttggggacca aactgcacag agagacgact cttggtgaga 360
agaaacatct tcgatttgag tgccccagag aaggacaaat tttttgccta cctcacttta 420
gcaaagcata ccatcagctc agactatgtc atccccatag ggacctatgg ccaaatgaaa 480
aatggatcaa cacccatgtt taacgacatc aatatttatg acctctttgt ctggatgcat 540
tattatgtgt caatggatgc actgcttggg ggatctgaaa tctggagaga cattgatttt 600
gcccatgaag caccagcttt tctgccttgg catagactct tcttgttgcg gtgggaacaa 660
gaaatccaga agctgacagg agatgaaaac ttcactattc catattggga ctggcgggat 720
gcagaaaagt gtgacatttg cacagatgag tacatgggag gtcagcaccc cacaaatcct 780
aacttactca gcccagcatc attcttctcc tcttggcaga ttgtctgtag ccgattggag 840
gagtacaaca gccatcagtc tttatgcaat ggaacgcccg agggaccttt acggcgtaat 900
cctggaaacc atgacaaatc cagaacccca aggctcccct cttcagctga tgtagaattt 960
tgcctgagtt tgacccaata tgaatctggt tccatggata aagctgccaa tttcagcttt 1020
agaaatacac tggaaggatt tgctagtcca cttactggga tagcggatgc ctctcaaagc 1080
agcatgcaca atgccttgca catctatatg aatggaacaa tgtcccaggt acagggatct 1140
gccaacgatc ctatcttcct tcttcaccat gcatttgttg acagtatttt tgagcagtgg 1200
ctccgaaggc accgtcctct tcaagaagtt tatccagaag ccaatgcacc cattggacat 1260
aaccgggaat cctacatggt tccttttata ccactgtaca gaaatggtga tttctttatt 1320
tcatccaaag atctgggcta tgactatagc tatctacaag attcagaccc agactctttt 1380
caagactaca ttaagtccta tttggaacaa gcgagtcgga tctggtcatg gctccttggg 1440
gcggcgatgg taggggccgt cctcactgcc ctgctggcag ggcttgtgag cttgctgtgt 1500
cgtcacaaga gaaagcagct tcctgaagaa aagcagccac tcctcatgga gaaagaggat 1560
taccacagct tgtatcagag ccatttataa aaggcttagg caatagagta gggccaaaaa 1620
gcctgacctc actctaactc aaagtaatgt ccaggttccc agagaatatc tgctggtatt 1680
tttctgtaaa gaccatttgc aaaattgtaa cctaatacaa agtgtagcct tcttccaact 1740
caggtagaac acacctgtct ttgtcttgct gttttcactc agccctttta acattttccc 1800
ctaagcccat atgtctaagg aaaggatgct atttggtaat gaggaactgt tatttgtatg 1860
tgaattaaag tgctcttatt ttaaaaaatt gaaataattt tgatttttgc cttctgatta 1920
tttaaagatc tatatatgtt ttattggccc cttctttatt ttaataaaac agtgagaaat 1980
ctaaaaaaaa aaaaaaaaaa 2000
<210> 2
<211> 23
<212> DNA
<213> artificial sequence
<400> 2
gaagaatgct cctggctgtt ttg 23
<210> 3
<211> 23
<212> DNA
<213> artificial sequence
<400> 3
ctcacggggt ctcttcctgt tta 23
<210> 4
<211> 24
<212> DNA
<213> artificial sequence
<400> 4
aaaagatctg ctatgagtgt tgtt 24
<210> 5
<211> 21
<212> DNA
<213> artificial sequence
<400> 5
gtgaatgacc ctatcgccta c 21
Claims (10)
1. with the TYR genes after the relevant mutation of 1 type of eye skin albinism, which is characterized in that the TYR genes after the mutation
Contain following mutational site：c.107G>C.
2. as described in claim 1 with the TYR genes after the relevant mutation of 1 type of eye skin albinism, which is characterized in that it is described
Mutation after TYR genes nucleotide sequence as shown in SEQ ID NO.1.
3. requiring the PCR primer of the TYR genes after the mutation described in 1 or 2 for test right, which is characterized in that described in use
The obtained segment of primer amplification in contain the mutational site.
4. primer as claimed in claim 4, which is characterized in that the primer is made of sense primer and downstream primer, institute
The nucleotide sequence for the sense primer stated is as shown in SEQ ID NO.2, the nucleotide sequence such as SEQ ID of the downstream primer
Shown in NO.3.
5. TYR genes after the relevant mutation as claimed in claim 1 or 2 with 1 type of eye skin albinism are to prepare Oculocutaneous white
Change the purposes in sick 1 type gene diagnosis reagent.
6. purposes of the primer in preparing 1 type gene diagnosis reagent of eye skin albinism described in claim 3 or 4.
7. with the TYR genes after the relevant mutation of 1 type of eye skin albinism, which is characterized in that the TYR genes after the mutation
Contain following mutational site：c.107G>C and c.1037-7T>A.
8. requiring the PCR primer of the TYR genes after the mutation described in 5 for test right, which is characterized in that drawn using described
The mutational site there are one containing respectively in the segment that object expands, it is preferred that for detecting c.107G>The mutational sites C
Primer be made of sense primer and downstream primer, the nucleotide sequence of the sense primer is as shown in SEQ ID NO.2, institute
The nucleotide sequence for the downstream primer stated is as shown in SEQ ID NO.3；For detecting c.1037-7T>The primer in the mutational sites A by
Sense primer and downstream primer composition, the nucleotide sequence of the sense primer is as shown in SEQ ID NO.4, the downstream
The nucleotide sequence of primer is as shown in SEQ ID NO.5.
9. preparing eye skin albinism with the TYR genes after the relevant mutation of 1 type of eye skin albinism described in claim 7
Purposes in 1 type gene diagnosis reagent.
10. purposes of the primer according to any one of claims 8 in preparing 1 type gene diagnosis reagent of eye skin albinism.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201810444229.2A CN108384789B (en) | 2018-05-10 | 2018-05-10 | Mutated TYR gene associated with type 1 of eyelid albinism and use thereof in gene diagnosis |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201810444229.2A CN108384789B (en) | 2018-05-10 | 2018-05-10 | Mutated TYR gene associated with type 1 of eyelid albinism and use thereof in gene diagnosis |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CN108384789A true CN108384789A (en) | 2018-08-10 |
| CN108384789B CN108384789B (en) | 2021-07-27 |
Family
ID=63070455
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN201810444229.2A Active CN108384789B (en) | 2018-05-10 | 2018-05-10 | Mutated TYR gene associated with type 1 of eyelid albinism and use thereof in gene diagnosis |
Country Status (1)
| Country | Link |
|---|---|
| CN (1) | CN108384789B (en) |
Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN112458104A (en) * | 2020-12-04 | 2021-03-09 | 哈尔滨医科大学 | Mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof |
| CN114605524A (en) * | 2022-05-16 | 2022-06-10 | 潍坊医学院附属医院 | GPR143 gene mutant causing albinism type I, polypeptide, kit, construct, recombinant cell and application |
| CN115927356A (en) * | 2022-09-16 | 2023-04-07 | 湖南家辉生物技术有限公司 | SLC45A2 pathogenic mutant gene, pathogenic mutant and application in preparing eye skin albinism IV type diagnostic kit |
-
2018
- 2018-05-10 CN CN201810444229.2A patent/CN108384789B/en active Active
Non-Patent Citations (4)
| Title |
|---|
| ANNAGIUSI GARGIULO,ET AL: "Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients", 《GENETICS》 * |
| VADIEH GHODSINEZHAD，ET AL: "Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)", 《PLOS ONE》 * |
| 宋春英，等: "一个白化病家系的TYR基因突变分析", 《中国医学遗传学杂志》 * |
| 徐伟，等: "TYR基因研究进展", 《中国畜牧杂志》 * |
Cited By (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN112458104A (en) * | 2020-12-04 | 2021-03-09 | 哈尔滨医科大学 | Mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof |
| CN114605524A (en) * | 2022-05-16 | 2022-06-10 | 潍坊医学院附属医院 | GPR143 gene mutant causing albinism type I, polypeptide, kit, construct, recombinant cell and application |
| CN114605524B (en) * | 2022-05-16 | 2022-07-26 | 潍坊医学院附属医院 | GPR143 gene mutant causing albinism type I, polypeptide, kit, construct, recombinant cell and application |
| CN115927356A (en) * | 2022-09-16 | 2023-04-07 | 湖南家辉生物技术有限公司 | SLC45A2 pathogenic mutant gene, pathogenic mutant and application in preparing eye skin albinism IV type diagnostic kit |
| CN115927356B (en) * | 2022-09-16 | 2024-04-30 | 湖南家辉生物技术有限公司 | SLC45A2 pathogenic mutant gene, pathogenic mutant and application thereof in preparation of eye skin albinism IV type diagnostic kit |
Also Published As
| Publication number | Publication date |
|---|---|
| CN108384789B (en) | 2021-07-27 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| Korenberg et al. | VI. Genome structure and cognitive map of Williams syndrome | |
| Simonelli et al. | Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients | |
| Hawkes et al. | Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree | |
| CN108384789A (en) | With the TYR genes after the relevant mutation of 1 type of eye skin albinism and its purposes in gene diagnosis | |
| El Chehadeh et al. | Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome | |
| Tsai et al. | Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism | |
| Sing et al. | Genetics of primary hypertension | |
| Gutknecht | Full-genome scans with autistic disorder: a review | |
| CN104975104A (en) | Alzheimer disease diagnosis and treatment marker and application thereof | |
| Prokisch et al. | A population-based epidemiological and genetic study of X-linked retinitis pigmentosa | |
| CN104450727A (en) | Pathogenic gene for X-linked hypophosphatemic rickets as well as protein encoded by pathogenic gene and application of pathogenic gene | |
| Yu et al. | Clinical and genetic features of patients with juvenile amyotrophic lateral sclerosis with Fused in Sarcoma (FUS) mutation | |
| CN104745592B (en) | CYP4V2 gene mutant and application thereof | |
| CN106701709B (en) | ATM gene mutant and application thereof | |
| CN103757028A (en) | OSBPL2 mutant gene as well as identification method and detection kit thereof | |
| CN104487575B (en) | NMNAT1 mutators, the primer for detecting it, kit and method with and application thereof | |
| Paller et al. | Compound heterozygous mutations in the hairless gene in atrichia with papular lesions | |
| Bateman et al. | A new locus for autosomal dominant cataract on chromosome 12q13 | |
| CN107099616A (en) | Detect the primer sets and its application and product and the method for detection RET gene mutations using it of RET gene mutations | |
| CN113969313A (en) | Rare genetic disease mutant gene and application thereof | |
| Yu et al. | Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss | |
| d'Amato et al. | Pseudoautosomal region in schizophrenia: linkage analysis of seven loci by sib-pair and lod-score methods | |
| CN110484623A (en) | A kind of RB1 mutated gene, primer, detection method, kit and application | |
| Yang et al. | Identification of a novel 15q21. 1 microdeletion in a family with Marfan syndrome | |
| CN105624167A (en) | Pathogenic mutant gene of hereditary central areolar retinopathy and detection reagent thereof |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PB01 | Publication | ||
| PB01 | Publication | ||
| SE01 | Entry into force of request for substantive examination | ||
| SE01 | Entry into force of request for substantive examination | ||
| GR01 | Patent grant | ||
| GR01 | Patent grant |