Probe composition based on exon capture for constructing hereditary disease gene library and kit and application

A genetic disease and exon capture technology, which is applied in the field of primer composition for the construction of genetic disease gene libraries, can solve problems affecting gene analysis results, large sequencing data, misdiagnosis or missed diagnosis, etc., to facilitate clinical promotion, The effect of reducing missed diagnosis and reducing costs

Inactive Publication Date: 2018-12-07
GUANGZHOU JIAJIAN MEDICAL TESTING CO LTD
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Problems solved by technology

Therefore, for genetic diseases, if the entire exons or all mRNAs of the human genome are used to construct a library, the sequencing data will be too large, the cost will be

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  • Probe composition based on exon capture for constructing hereditary disease gene library and kit and application
  • Probe composition based on exon capture for constructing hereditary disease gene library and kit and application
  • Probe composition based on exon capture for constructing hereditary disease gene library and kit and application

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Embodiment Construction

[0014] The present invention selects multiple disease-causing genes as targets from databases such as NCBI, OMIM, UniProt, HGMD, HUGO, and Refseq, and currently known human disease-causing genes, and combines all the genes together, and creatively integrates relevant genes. Intron sequences were classified, and part of the capture probe was designed in the intron conserved region adjacent to the exon, which contained more intron regions than the exon capture region of the commercially available kits. At the same time, for specific Set multiple capture probes in the conserved region of the gene, and adjust the probe density to ensure the success rate and coverage uniformity of target region capture, so as to ensure that the gene data contained in the library can truly reflect point mutations and copies at the exon level Numerous mutations and other mutation types.

[0015] Specifically, the probe composition for the construction of the genetic disease gene library based on exon...

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Abstract

The invention relates to a probe composition based on exon capture for constructing a hereditary disease gene library, a kit and application. The research finds that by directly designing a capture probe for an exon or an mRNA (Messenger Ribonucleic Acid), only a part of exon gene fragments can be captured in most cases, and certain exon gene fragments are omitted, and thus, the constructed library is not perfect. Therefore, a genomic DNA (deoxyribonucleic acid) is selected as a template of the probe composition based on the exon capture for constructing the hereditary disease gene library; intron subsequences are creatively classified; a part of capture probes are designed in an intron conserved region close to exons; the probe composition contains intron regions more than exon capture regions of the commercially available kit; multiple capture probes are set for the conserved region of specific genes; the success rate of the target region capture and the coverage uniformity are ensured by adjusting the density of the probes so as to ensure that gene data contained in the library can truly reflect various mutation types at the exon level.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a primer composition, kit and application for constructing a genetic disease gene library based on exon capture. Background technique [0002] Exome sequencing technology refers to a technology that uses target sequence capture technology to capture the DNA of all exon regions of the genome and then perform high-throughput sequencing. The enrichment of target sequences is the key to exome sequencing technology. Currently, the main capture platforms on the market include Roche’s NimbleGen gene capture chip, Agilent’s SureSelect target sequence capture system, and Illumina’s TruSeq and Nextera Rapid sequence capture systems. Hybridization, the purpose of enriching the target gene is achieved by collecting hybridization fragments. [0003] The above-mentioned platforms have been widely used, and their relevant parameters are relatively complete, and there are many papers to compare an...

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Application Information

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IPC IPC(8): C40B50/06C12N15/11
CPCC12N15/11C40B50/06
Inventor 张巍
Owner GUANGZHOU JIAJIAN MEDICAL TESTING CO LTD
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