A dna library for detecting and diagnosing pathogenic genes of hereditary cardiomyopathy and its application
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A DNA library and disease-causing gene technology, applied in the field of DNA library, can solve the problems of timeliness and low throughput of multi-sample detection in gene detection areas
Active Publication Date: 2018-11-23
TONGJI HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI TECH
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At the same time, the traditional gene detection method based on Sanger sequencing has the disadvantage of low throughput, and only one amplification region can be detected in one reaction, which cannot meet the requirements of huge gene detection area and multi-sample detection timeliness
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Embodiment 1
[0058] 1. Reagents used in the method:
[0059] Ion AmpliSeq TM Library Kit 2.0, Ion PGM TM Template OT2 200Kit v3, Ion Sequencing 200Kit v2, Ion Xpress Barcode Adapters 1-16Kit, Ion 318 TM ChipKit v2
[0060] 2. Specimen collection and preservation
[0061] (1) Specimen collection: The specimen is the peripheral blood of the patient. Blood is 5ml of venous blood taken routinely, treated with EDTA anticoagulant.
[0062] (2) Storage: It can be detected immediately, stored at 4°C for one week, and stored at -80°C for more than one week.
[0063] 3. Detection steps and result analysis:
[0064] (1) Extraction of genomic DNA of specimens: DNA extraction of specimens was carried out according to the operation instructions of the blood DNA extraction kit of Tiangen Biochemical Technology (Beijing) Co., Ltd.
[0065] (2) Super multiplex PCR amplification and library building of the target detection region: the whole exons of 80 genes involved in the present invention are u...
Embodiment 2
[0101] In the present invention, the primer pool contains 8 cardiomyopathy pathogenic genes newly discovered by the inventor, as shown in the following table:
[0102] serial number
gene name
OMIM number
Associated disease
1
CNBP
116955
familial dilated cardiomyopathy
2
COX15
603646
familial dilated cardiomyopathy
3
CTF1
600435
familial dilated cardiomyopathy
4
CTLA4
123890
familial dilated cardiomyopathy
5
FHL2
602633
familial dilated cardiomyopathy
6
FOSL1
136515
familial dilated cardiomyopathy
7
HLA-DQB1
604305
familial dilated cardiomyopathy
8
SEMA4D
601866
familial dilated cardiomyopathy
[0103] The newly discovered 8 cardiomyopathy-causing genes come from the research accumulation and family investigation of the inventors over the years. The inventors first searched through the KEGG signaling pathway and the hom...
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Abstract
The invention discloses a DNA library for detection of hereditary cardiomyopathy causing gene mutation through the targeting high-flux semiconductor sequencing technology and application thereof. Specifically, a primer pool is designed according to 80 hereditary cardiomyopathy causing genes, super-multiple PCR amplification is performed on sample genome DNA, and an amplified product is sequenced through the high-flux semiconductor sequencing technology to find pathogenic mutation so as to provide genetic and molecular biological theoretical bases for clinical diagnosis. The DNA library has the advantages of being accurate, quick, flexible and low in cost; through 80 gene detection areas related to the DNA library, five kinds of common hereditary cardiomyopathy including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy and left ventricular myocardial densification incomplete cardiomyopathy can be detected, and the DNA library has an important meaning and clinical value for diagnosis and differential diagnosis of the hereditary cardiomyopathy.
Description
technical field [0001] The invention relates to a DNA library for detecting and diagnosing pathogenic genes of hereditary cardiomyopathy by targeted high-throughput semiconductor sequencing technology and its application. Specifically, based on the pathogenic genes of hereditary cardiomyopathy, design supermultiplex PCR primers that can cover the exons and adjacent regions of the above genes, and perform supermultiplex PCR amplification on the sample genomic DNA, and use high-throughput sequencing technology to amplify the products Sequencing, searching for pathogenic mutations, clarifying the genetic etiology of hereditary cardiomyopathy, and providing a theoretical basis for genetics and molecular biology for clinical diagnosis belongs to the gene detection technology in the clinical detection technology in the field of biomedicine. Background technique [0002] Hereditary cardiomyopathy is a group of diseases mainly characterized by direct myocardial involvement, mainly i...
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