CN106591461A - Detection kit for detecting hereditary thrombophilia related gene group - Google Patents
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- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
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Abstract
The invention discloses a sequencing kit for screening hereditary thrombophilia related gene mutation, and a subsequent medical science interpreting database. A hereditary thrombophilia related gene group comprises SERPINC1, SERPIND1 and other seven genes. The sequencing kit comprises multiple PCR primers for amplifying all exons and relevant areas of the nine hereditary thrombophilia related genes. The kit for screening hereditary thrombophilia related gene mutation has the advantages of high detection efficiency, wide mutation gene coverage and high detection rate; and a medical science interpreting report given by the invention is accurate and authoritative.
Description
Technical field
The present invention relates to technical field of molecular biology, further to the easy bolt disease associated gene mutation of examination heritability
Detection kit and its medical science unscrambling data storehouse, and in particular to a kind of detectable of the easy bolt disease related gene group of detection heritability
Box.
Background technology
Easily bolt disease refers to there is the heritabilitys such as anticoagulant protein, thrombin, fibrinolytic protein or acquired defect, or exists
Acquired risk factor and there is high thromboembolism tendency.The thromboembolism type of easily bolt disease is mainly venous thromboembolism
(VTE)。
The easy bolt disease of heritability mainly includes that inborn anticoagulant protein, thrombin, fibrinolytic protein etc. are abnormal, and acquired
Easily bolt disease is mainly due to easy bolt symptom caused by acquired easy bolt disease or acquired easy bolt factor.Current heritability
Easily bolt disease mainly passes through lab testing deficiency of anticoagulant proteins, such as antithrombase, PROTEIN C and Protein S activity, in addition in vein
The acute stage of Cardioversion, there may be the consumption of anticoagulant protein, the of short duration decline for anticoagulant protein level occur, thus to diagnosis
Cause difficulty.Heparin therapy may interfere with the activity of antithrombase, and Anticoagulation of Warfarin is often accompanied by Protein S and PROTEIN C is lived
Property level decline, anticoagulant protein activity level also easily by other acquisition sexual factors or physiological move speed affected appearance one
The reduction of the property crossed, therefore typically only genetic deficiency of anticoagulant proteins should not be made a definite diagnosis with the result of a test in laboratory.
9 genes that the Disease-causing gene for relating generally to the easy bolt disease of heritability being currently known is listed in having list, wherein dividing
The experimental technique of sub- biology mainly has nest-type PRC, generation sequencing etc..PCR method can not intuitively obtain the mutant nucleotide sequence having,
And the method for generation sequencing is affected by sequencing throughput, it is impossible to disposably detect whole exon regions of multiple genes.And
Secondary sequencing disposably can accurately measure the exon and related sequence of multiple genes as a kind of high-throughout detection method
Row, are possibly realized the easy bolt disease of accurate diagnosing hereditary.
The content of the invention
It is contemplated that for the technological deficiency of prior art, there is provided a kind of easy bolt disease related gene group's of detection heritability
Detection kit, is more limited to the diagnostic method for solving the easy bolt disease of heritability in prior art, is lacked from molecular biology
The foundation of the easy bolt disease of angle diagnosing hereditary.
The invention solves the problems that another technical problem be the easy bolt disease of heritability in prior art diagnostic method accuracy compared with
It is low.
To realize above technical purpose, the present invention is employed the following technical solutions：
A kind of detection kit for detecting the easy bolt disease related gene group of heritability, it is characterised in that the test kit includes following
9 genes：SERPINC1, SERPIND1, HRG, PROC, PROS1, THBD, PLAT, F5, F2.
Above-mentioned 9 genes, are made up of 105 hot spot mutations, and its mutational site is the conventional mutational site in this area, preferably
Include indel mutational sites (insertion or the sequence that causes of disappearance change insertion or deletion, indel), nothing
Adopted mutational site, splice region mutational site or missense mutation site, 9 gene extrons more preferably of the present invention and correlation
The hot spot mutation in region is as shown in table 1.
1 hot spot mutation list of table
The hot spot mutation of 9 gene extron subregions of the present invention can be used to making auxiliary to the easy bolt disease of heritability examines
Disconnected, the conventional diagnostic method of the easy bolt disease of this area heritability has the qualitative of blood coagulation eight detections, thrombin, anticoagulant proteins etc.
Quantitatively, the method for the invention preferably makes diagnosis to the easy bolt disease of heritability from molecular biology angle.
The multiplex PCR of the easy bolt disease related gene exon region of the present invention one group of detection of offer heritability of the present invention draws
Thing, the amplification scope of the primer include the exon region of 9 and the easy bolt disease related gene of heritability, and it is single that amplification is obtained
Fragment length is 250bp or so.The multiple PCR primer provided using the present invention, with reference to secondary sequencing technologies, can detect this
Whole exon regions in the bright mutant gene group.
Wherein described secondary sequencing reagent is reagent commonly used in the art, gained sequence is entered as long as disclosure satisfy that
The requirement of the secondary sequencing of row.The preparation method of reagent thereof is this area customary preparation methods, preferably commercially available.
Detection kit of the present invention more preferably also includes that the genomic DNA that will be extracted in detection object is made and is available for surveying
The reagent in the library that sequence is used, this kind of reagent is reagent commonly used in the art, as long as disclosure satisfy that multiplex PCR to genome
The requirement of DNA mass.The preparation method of reagent thereof is this area customary preparation methods, preferably commercially available.
Detection kit of the present invention preferably also includes：DNTP solution, archaeal dna polymerase, for isolated or purified core
Acid is Beckman magnetic beads.
Tissue of the sample of the present invention for detection object, as long as the gene of detection object can be extracted from detection sample
Group DNA.The detection sample is preferably solid tissue, blood etc., as peripheral blood sample simplicity is easy to get, wound compared with
It is little, so generally as preferred sample.
A kind of using method of test kit of the present invention, which comprises the following steps：
(1) bone marrow of detection object is extracted using detection kit of the present invention, genomic DNA is extracted；
(2) with multiple PCR primer to the outer aobvious of the easy bolt disease related gene of 9 heritabilitys described in invention in genomic DNA
Subregion is expanded；
(3) fragment of amplification gained in step (2) is made the library for being available for Ion Torrent microarray datasets to be sequenced；
(4) gained DNA library in step (3) is sequenced, obtains lower machine data；
(5) to (4) in lower machine data carry out bioinformatic analysis, then understood using medical science unscrambling data storehouse
Make diagnosis.
The concrete operation method of each step refers to kit specification above.
Reagent and raw material used by the present invention is commercially available.
The present invention positive effect be：Can be used for the easy bolt disease dependency basis of examination heritability using what the present invention was provided
Because of the gene group being mutated, with reference to high throughput sequencing technologies, it is possible to achieve easy to heritability outside morphology and flow cyctometry
Bolt disease carries out auxiliary diagnosis, makes anticipation especially for the follow-up orientation treatment of disease and effect and has special advantage.This
The detection kit of the gene group for the easy bolt disease associated gene mutation of examination heritability that invention is provided have detection efficiency it is high,
The advantages of recall rate is high.
Specific embodiment
Hereinafter the specific embodiment to the present invention is described in detail.In order to avoid excessive unnecessary details,
Will not be described in detail to belonging to known structure or function in following examples.In addition to being defined, institute in following examples
Technology and scientific terminology are with the identical meanings being commonly understood by with those skilled in the art of the invention.
Material and method：
In hematopathy hospital of the Chinese Academy of Medical Sciences and consonance magnificent medical diagnosiss center in August, 2016 in December, 2016
In the patient of diagnosis, according to following standard, we enter Line Continuity and enter group (11).
Inclusion criteria is：Jing clinical symptoms and go out blood coagulation laboratory inspection and be diagnosed as easy bolt disease or abnormal thrombus shape
Into patient, and clinician's screening needs to carry out gene test to have carried out auxiliary to be confirmed whether it is the easy bolt disease of heritability.
The diagnostic result of 11 patients is as shown in table 2：
2 patient diagnosis the results list of table
Collection 3mL Bone Marrow of Patients extraction genomic DNAs are to be measured, and the detection is through the human relations of hematopathy hospital of the Chinese Academy of Medical Sciences
The approval of reason committee.
Sample process：In sample, genome utilizes Tiangeng DNA extraction kit (article No.：DP318-03) it is stripped, has
Operation instructions of the body operational approach referring to test kit.
Genomic DNA is expanded with multiple PCR primer, use of the Examination on experimental operation referring to Life companies test kit
Description.
The structure in library：The DNA fragmentation obtained to amplification builds storehouse examination using the Ion Torrent platforms that Life companies produce
Agent box carries out the structure of sequencing library, operation instructions of the Examination on experimental operation referring to Life companies test kit.
High-flux sequence：The sequencing library for building is carried out into height Jing after Water-In-Oil process on Ion Torrent platforms
Flux is sequenced, Water-In-Oil processing method and high-flux sequence method refer to high-flux sequence instrument Ion Torrent and which is matched somebody with somebody
The operation instructions of complete equipment One Touch.
Bioinformatic analysis：First, using Ion Report softwares (v4.6, Thermo Fisher, Carlsbad,
CA, USA) low-quality sequencing fragment is filtered, and qualified sequencing fragment is compared into mankind's reference gene group hg19
(http://hgdownload.cse.ucsc.edu/downloads.html), using Torrent Variant Caller
(v4.6.0.7) subprogram detection mutational site, software parameter use the setting of acquiescence.This software has been optimized for
Process the distinctive type of error of Ion Torrent microarray datasets.The finally mutation to finding out includes that SNP and Indel is used
ANNOVAR(http://annovar.openbioinformatics.org/en/latest/) software annotated, in annotation
Appearance includes being mutated the position in genome, the gene of association, gene extron numbering, nucleotide level variation, corresponding egg
White level makes a variation, and the mutation is in dbSNP data base (http://www.ncbi.nlm.nih.gov/snp/), thousand people's genes
Group data base 1000Genomes (http://www.1000genomes.org/), exon group integrated database ExAC
(http://exac.broadinstitute.org/) and human mutation data base HGMD (http://
Www.hgmd.cf.ac.uk/ac/index.php the annotation in), PolyPhen (http://
) and SIFT (http genetics.bwh.harvard.edu/pph2/://sift.jcvi.org/) function prediction result etc..Enter
One step is using the screening pathogenic mutation of principle once site：(1) genomic locations being located according to mutation and type, filter out to egg
White Product Sequence does not produce the mutation of impact；(2) using 1000Genomes data and ExAC data, each mutation is annotated in people
Ratio in group, is not considered as pleomorphism site if ratio is less than or equal to 1%；(3) human mutation data base is retrieved,
Whether one mutation of inquiry is on the books in HGMD, and which is occurred in the relevant diseases such as the easy bolt disease of heritability；(4) utilize protein
Function prediction software PolyPhen-2 and SIFT predict whether the mutation affects protein function；(5) if passing through (2) (3) (4)
Afterwards, one is mutated at least two in satisfaction " non-polymorphism ", " the easy bolt disease of heritability was recorded " and " impact protein function " this three
Bar, will be judged to may be related to disease.Finally, if although a mutation is unsatisfactory for (5) and has record in HGMD,
Mutation for interrogatory is read then.If a last mutation be expressly recited in the literature not with disease height correlation,
Hot spot mutation is directly judged to then.
Statistical analysiss：The ratio that each gene carries pathogenic mutation is counted, mutation rate highest gene is filtered out, is used
Software is Excel.
Medical science is understood：Molecular pathology is made to the genic mutation type that bioinformatic analysis draw with medical science unscrambling data storehouse
Diagnosis.Medical science unscrambling data storehouse used is as follows：
(1) SERPINC1 gene mutation known to is related to hereditary antithrombin (AT) deficiency disease, hereditary antithrombin
(AT) deficiency disease is usually autosomal dominant or recessive hereditary disease.It is mainly shown as venous thrombosis.Congenital AT lacks
Divide amphitypy：I types mainly show AT antigen (AT:) and activity (AT Ag:A synchronous reduction), II types AT disappearance is due to AT structures
Caused by abnormal.
(2) SERPIND1 gene mutation known to is related to heparin co factor II deficiency diseases, and heparin co factor II deficiency diseases are
A kind of autosomal dominant inherited disease.Patients blood plasma HCFII levels and activity reduction, clinically have deep venous thrombosis and pulmonary infarction
Risk is formed, especially when other clotting mechanism exceptions of merging.
(3) known to, HRG gene mutation is related to amply supplemented modules Defect, and amply supplemented modules Defect one is
Plant autosomal dominant inherited disease.Platelet quantity and function, all kinds of thrombins and fibrinolysis component are normal, HRG levels
It is abnormal, clinically may occur in which pulmonary infarction and Zinn's artery thrombosis.
(4) known to, PROC gene mutation is related to protein C deficiency.Protein C deficiency is commonly considered as autosome and is shown
Property heredopathia, but part homozygosis protein C deficiency patient shows as recessive inheritance.Most of patients Protein C activity and normal population
It is close or lower slightly, can be without obvious clinical symptoms, some patientss may occur in which deep venous thrombosis, superficial thrombophlebitises and lung bolt
Plug.Part homozygous or double heterozygous subtype blood of neonate bolt disease are heavier, often show as skin burst purpura, DIC or
Cerebral thrombosiss.
(5) known to, PROS1 gene mutation is related to protein S deficiency, protein S deficiency be a kind of autosomal dominant or
Person's recessive hereditary disease.Patient may occur in which deep venous thrombosis, superficial thrombophlebitises and pulmonary infarction.Lacked according to the PS of ISTH
Parting standard：I types are that FPS, TPS and PS activity reduces (quantity shortage)；II type is that only PS activity reduces (quality shortage)；
III type is TPS normal, and FPS and PS is active to be reduced.
(6) known to, THBD gene mutation is related to thrombomodulin Defect, and thrombomodulin Defect is a kind of
Autosomal dominant disease.Patient may occur in which arteriovenous thrombosis, pulmonary infarction and myocardial infarction.Patients blood plasma's THBD water
Pancake is low, and platelet function, thrombin level and fibrinolytic are normal.
(7) PLAT gene mutation known to is related to tissue-type plasminogen activator deficiency disease, and histiotype plasminogen swashs
Agent deficiency disease living is a kind of autosomal inheritance disease, and patient can have thrombosiss repeatedly and fine appearance abnormal, in general blood plasma
TPA releases are abnormal, generally horizontal reduction.
(8) F5 gene mutation known to is related to congenital factor V deficiency diseases and FV leiden diseases, Yi Zhongchang
Autosomal recessive heredopathia, has consanguineous mating history more, and men and women can fall ill.FV deficiency disease bleedings are different, heterozygote
Generally without obvious clinical symptoms, homozygote has the slight bleeding to severe.Patient shows as APTT and PT while extending.F5
Mutation is the molecular basises of FV deficiency diseases.FV Leiden gene mutation can cause FV unwise to the Degradation of activated protein C
Sense, causes the dangerous rising of thrombosiss.
(9) F2 gene mutation known to is related to prothrombin deficiency and thrombinogen G20210A mutation, usually often
Autosomal recessive heredopathia.Patient may occur in which Hypoprothrombinemia or abnormal prothrombin mass formed by blood stasis.Clinical manifestation is different journeys
Degree bleeding, the seriousness of bleeding tendency are related to plasma prothrombin active quantities.Laboratory examination results PT and APTT
Extend, TT is normal, patient PT prolongations can be stored blood plasma correction.Thrombinogen G20210A mutation can increase phlebothrombosises shape
Into risk, and by carrying site patient, there is the increase of thrombosiss risk.
Using test kit testing result of the present invention：
Detected by 11 patients, the positive rate of 9 genes is as shown in table 3 below：
39 gene masculine rate lists of table
| Mutant gene | Mutation case load | Mutation rate | Mutant gene | Mutation case load | Mutation rate |
| SERPINC1 | 0 | 0 | THBD | 1 | 9.09% |
| SERPIND1 | 0 | 0 | PLAT | 0 | 0 |
| HRG | 0 | 0 | F5 | 0 | 0 |
| PROC | 1 | 9.09% | F2 | 0 | 0 |
| PROS1 | 1 | 9.09% |
Show Jing after statistics：There are 3 in 11 patients for the easy bolt disease patient of heritability, remaining 9 is acquired thrombosis
Formed or acquired easy bolt disease patient, and the conclusion for drawing is consistent with clinical last diagnostic.As can be seen here, using secondary
The method of sequencing carries out auxiliary diagnosis to the easy bolt disease patient of heritability, can effectively with acquired high blood coagulation state or
Acquired easy bolt disease makes a distinction, with diagnosis accurately, obtain the characteristics of containing much information.
Above embodiments of the invention are described in detail, but the content have been only presently preferred embodiments of the present invention,
Not to limit the present invention.All any modification, equivalent and improvement made in the application range of the present invention etc., all should
It is included within protection scope of the present invention.
Claims (7)
1. a kind of detection kit of the detection easy bolt disease related gene group of heritability, it is characterised in that the test kit includes following 9
Individual gene：SERPINC1, SERPIND1, HRG, PROC, PROS1, THBD, PLAT, F5, F2.
2. the detection kit of a kind of detection easy bolt disease related gene group of heritability according to claim 1, its feature exist
The primer of 9 genes more than the detection kit also includes, the amplification scope of the primer include the complete of 9 genes of the above
Portion's exon region.
3. the detection kit of a kind of detection easy bolt disease related gene group of heritability according to claim 2, its feature exist
Include 105 hot spot mutations, 105 hot spot mutations and its pass corresponding with 16 genes in the exon region
It is as shown in the table：
4. the detection kit of a kind of detection easy bolt disease related gene group of heritability according to claim 3, its feature exist
Include for expanding the multiple PCR primer of the mutant gene group exon region in the test kit, and be used for secondary survey
The reagent of sequence.
5. the detection kit of a kind of detection easy bolt disease related gene group of heritability according to claim 3, its feature exist
In the test kit include by extract in detection object genomic DNA make be available for be sequenced library reagent.
6. the detection kit of a kind of detection easy bolt disease related gene group of heritability according to claim 3, its feature exist
Include dNTP solution, archaeal dna polymerase, for the reagent of isolated or purified nucleic acid, positive control or negative right in the test kit
According to.
7. the detection kit of a kind of detection easy bolt disease related gene group of heritability according to claim 3, its feature exist
Include the data base of gene group examining report in the test kit, the data base contains the medical science solution to the hot spot mutation
Release.
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Cited By (6)
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| CN107012238A (en) * | 2017-05-04 | 2017-08-04 | 上海交通大学医学院附属瑞金医院 | Easy bolt associated gene mutation detection kit |
| CN108048554A (en) * | 2017-12-29 | 2018-05-18 | 北京泱深生物信息技术有限公司 | The molecular marker that THBD genes are diagnosed as parkinsonism |
| CN109652533A (en) * | 2019-01-11 | 2019-04-19 | 中国人民解放军总医院 | A method of for detecting the Disease-causing gene for causing the other systems disease of cardiovascular symptom |
| CN111549128A (en) * | 2019-08-28 | 2020-08-18 | 华中科技大学同济医学院附属协和医院 | Gene diagnosis method for thrombus and hemorrhagic disease |
| CN113549689A (en) * | 2021-09-23 | 2021-10-26 | 默禾医疗科技（上海）有限公司 | Kit and method for detecting PROS1 gene exon |
| CN114657243A (en) * | 2022-05-12 | 2022-06-24 | 广州知力医学诊断技术有限公司 | Primer and kit for detecting genetic anticoagulant protein deficiency and fibrinogen abnormal high-frequency gene mutation |
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Cited By (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN107012238A (en) * | 2017-05-04 | 2017-08-04 | 上海交通大学医学院附属瑞金医院 | Easy bolt associated gene mutation detection kit |
| CN107012238B (en) * | 2017-05-04 | 2020-11-24 | 上海交通大学医学院附属瑞金医院 | Easy thrombus related gene mutation detection kit |
| CN108048554A (en) * | 2017-12-29 | 2018-05-18 | 北京泱深生物信息技术有限公司 | The molecular marker that THBD genes are diagnosed as parkinsonism |
| CN109652533A (en) * | 2019-01-11 | 2019-04-19 | 中国人民解放军总医院 | A method of for detecting the Disease-causing gene for causing the other systems disease of cardiovascular symptom |
| CN111549128A (en) * | 2019-08-28 | 2020-08-18 | 华中科技大学同济医学院附属协和医院 | Gene diagnosis method for thrombus and hemorrhagic disease |
| CN113549689A (en) * | 2021-09-23 | 2021-10-26 | 默禾医疗科技（上海）有限公司 | Kit and method for detecting PROS1 gene exon |
| CN113549689B (en) * | 2021-09-23 | 2021-12-24 | 默禾医疗科技（上海）有限公司 | Kit and method for detecting PROS1 gene exon |
| CN114657243A (en) * | 2022-05-12 | 2022-06-24 | 广州知力医学诊断技术有限公司 | Primer and kit for detecting genetic anticoagulant protein deficiency and fibrinogen abnormal high-frequency gene mutation |
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