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DNA library for detecting pathogenic genes of genetic vascular diseases and application thereof

A DNA library, vascular disease technology, applied in the field of DNA library, can solve the problems of complex operation, high cost, time-consuming and so on

Active Publication Date: 2017-01-25
ANNGEEN BIOTECHNOLOGY CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the previous genetic diagnosis was based on the Sanger sequencing method, which was costly, time-consuming, and complicated to operate, and was not suitable for clinical complex diseases caused by polygenic diseases, so it was powerless to treat hereditary vascular diseases

Method used

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  • DNA library for detecting pathogenic genes of genetic vascular diseases and application thereof
  • DNA library for detecting pathogenic genes of genetic vascular diseases and application thereof
  • DNA library for detecting pathogenic genes of genetic vascular diseases and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0083] 1. Reagents used in the method:

[0084] Ion AmpliSeq TM Library Kit 2.0, Ion PI TM Hi-Q TM OT2 200Kit, Ion PI TM Hi-Q TM Sequencing 200Kit, Ion Xpress Barcode Adapters 1-16Kit, Ion PI TM Chip v3

[0085] 2. Specimen collection and storage

[0086] (1) Specimen collection: The specimen is the peripheral blood of the patient. Blood is 5ml of venous blood taken routinely, treated with EDTA anticoagulant.

[0087] (2) Storage: It can be detected immediately, stored at 4°C for one week, and stored at -80°C for more than one week.

[0088] 3. Detection steps and result analysis:

[0089] (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.

[0090] (2) Super multiplex PCR amplification and library building of the target detection area: the whole exons of 151 genes involved in the present invention are...

Embodiment 2

[0127] The primer pool of the present invention contains 103 genetic vascular disease-causing genes newly discovered by the inventor, as shown in Table 1 above. The newly discovered 103 genetic vascular disease-causing genes come from the inventor's research accumulation and family investigation over the years. The inventor first searched through the KEGG signaling pathway and the homologous gene library among the known causative genes of hereditary vascular diseases to find the homologous genes of the known causative genes and the key genes on the same pathogenic pathway. Then, targeted high-throughput sequencing of candidate disease-causing genes was carried out in the large-scale case sample library of Chinese yellow-race patients accumulated over the years, and bioinformatics analysis was carried out to screen and find disease-causing mutations. Cases with pathogenic mutations were screened for follow-up and further family analysis, and the entire family of the patient was...

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Abstract

The invention discloses a DNA library for detecting pathogenic genes of multiple genetic vascular diseases through a targeted high-throughput semiconductor sequencing technology and application thereof. The operating method specifically comprises the following steps: designing a primer pool according to 151 pathogenic genes of genetic vascular diseases, performing super-multiple PCR amplification on genomic DNA of samples, sequencing the amplification products by utilizing the high-throughput semiconductor sequencing technology, searching pathogenic mutations, and providing genetic and molecular biological theoretical basis for clinical diagnosis. The DNA library disclosed by the invention has the characteristics of accuracy, rapidness, flexibility and low cost, the 151 gene detection areas involved in the invention are capable of detecting multiple genetic vascular diseases such as aortic dissection, arterial aneurysm, hemorrhagic apoplexy and the like, and the DNA library has great significance and clinical values on diagnosis and differential diagnosis of the genetic vascular diseases.

Description

technical field [0001] The invention relates to a DNA library for detecting and diagnosing pathogenic genes of hereditary vascular diseases by targeted high-throughput semiconductor sequencing technology and its application. Specifically, based on the pathogenic genes of hereditary vascular diseases, supermultiplex PCR primers that can cover the exons and adjacent regions of the above genes are designed, and supermultiplex PCR amplification is performed on the sample genomic DNA, and the amplified products use high-throughput sequencing technology Sequencing, searching for pathogenic mutations, clarifying the genetic etiology of hereditary vascular diseases, 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] Inherited vascular diseases are a kind of cardiovascular and cerebrovascular system diseases ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C40B40/08
Inventor 汪道文李宗哲
Owner ANNGEEN BIOTECHNOLOGY CO LTD
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