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Method of detecting GJB2 gene mutation noninvasively, kit and preparation method thereof

A reagent kit and genetic technology, applied in the field of genetic diagnosis

Active Publication Date: 2018-11-20
THE FIRST AFFILIATED HOSPITAL OF ARMY MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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[0006] There are only a few reports in the world on the methodological r

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  • Method of detecting GJB2 gene mutation noninvasively, kit and preparation method thereof
  • Method of detecting GJB2 gene mutation noninvasively, kit and preparation method thereof
  • Method of detecting GJB2 gene mutation noninvasively, kit and preparation method thereof

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Abstract

The invention relates to a method of detecting GJB2 gene mutation noninvasively, a kit and a preparation method thereof. The method is characterized by comprising the following steps: (1) taking plasma DNA of a subject as a template; (2) carrying out PCR pre-amplification; (3) performing index PCR amplification on a pre-amplification product; (4) performing 150bp double-end sequencing on IlluminaNextSeq after library quality control of the PCR amplification product; (5) performing bioinformatics analysis on the sequenced sequence information to obtain gene mutation data. The invention furtherrelates to the related kit.

Description

technical field [0001] The invention relates to the field of gene diagnosis, in particular to a method for detecting gene mutation. Background technique [0002] The detection of gene mutation can be used to identify whether the genotype of the sample to be tested is wild type or mutant. It can also be used to detect the genetic status of the individual to be tested. For example, whether it contains gene mutations that cause certain diseases. [0003] Many kinds of tumor detection, detection of fetal genetic status are of great value. At present, the genetic mutation screening for the fetus is mainly based on multiple platform systems such as SNP array, and the genome-wide SNP analysis of the fetus and parents is costly; while the conventional polymerase-based sequencing-by-synthesis is difficult to ensure the accuracy of bases, and the occurrence of The base error caused by the sequence noise, so conventional library capture and high-throughput sequencing cannot solve th...

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6886C12Q1/6858C12Q1/6869C12N15/11
CPCC12Q1/6858C12Q1/6869C12Q1/6883C12Q1/6886C12Q2600/156C12Q2531/113C12Q2525/191
Inventor 袁慧军谭博程静卜枫啸卢宇
Owner THE FIRST AFFILIATED HOSPITAL OF ARMY MEDICAL UNIV
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