Method for noninvasive detection of SLC26A4 gene mutation and kit

Abstract

The invention relates to a method for noninvasive detection of SLC26A4 gene mutation, a kit and a preparation method of the kit. The method is characterized by comprising the following steps that 1, the plasma DNA of a subject serves as a template; 2, PCR pre-amplification is carried out; 3, Index PCR amplification is carried out on the pre-amplified product; 4, after library quality control is carried out on the PCR amplification product, 150 bp double-ended sequencing is performed on Illumina NextSeq; 5, sequence information of sequencing is subjected to bioinformatics analysis to obtain gene mutation data. The invention further relates to the related kit.

Description

technical field [0001] The invention relates to the field of gene diagnosis, in particular to a method and a kit for non-invasive detection of SLC26A4 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-thr...

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Problems solved by technology

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

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