Kit for screening deaf gene of Chinese populations, and use method thereof

Abstract

The invention discloses a kit for one-time qualitative screening of common fourteen mutational sites of deaf gene of Chinese populations and a use method thereof. The kit takes total fourteen sites of the deaf gene of the Chinese populations as detection objects. Application primers and extension primers are respectively designed for the mutation of each site, multiple PCR amplification and markup extension are simultaneously carried out on each target zone, and genotypes of above fourteen sites can be obtained at once through capillary electrophoretic analysis. The screening method and the kit of the invention have advantages of convenient use, simple operation, low cost, high flux, and direct and reliable detection result, and are suitable for large scale screening of the deaf gene mutation of the Chinese populations.

Description

Technical field [0001] The invention involves the field of gene mutation detection in the field of genetic engineering technology, which specifically involves a kit and its usage of deaf gene screening of Chinese population. Background technique [0002] Deafness is a common disease that seriously affects the quality of life and exchanges.There are more than 700 million people in the world suffering from moderate hearing loss. Among the 61 million disabled people in my country, the hearing language disabled reaches 27 million, and the rate of 30,000 deaf children per year is increased. Nonsyndromic Hearing Loss, non -synthetic hearing damage) accounts for about 40%.So far, 28 analogy -related chromosomal hidden genes related to non -syndrome deafness, 22 analogenic sterilization genes, and 1 X chain gene have been cloned, and each gene has a large number of deafness.Among them, mutations in GJB2, SLC26A4 genes and MTDNA are the most common, and other types are small. [0003] Dom...

AI Technical Summary

Problems solved by technology

[0008] At present, traditional gene mutation detection methods include single strand conformation polymorphism (Single Strand Conformation Polymorphism, SSCP), PCR-restriction fragment length polymorphism (Restriction Fragment Length Polymorphism, RFLP), denaturing high performance liquid chromatography (Denaturing High Performance Liquid Chromatography, DHPLC), direct sequencing, gene chips, etc., these methods either have limited detection capabilities, or low throughput, or are time-consuming and labor-intensive, and require equipment and Consumables are expensive

More importantly, it is difficult to perform high-throughput detection of multiple mutation sites of different genes at the same time in these methods except for gene chips, and the gene chip technology platform is expensive, requires high quality equipment and personnel, and is difficult to be used in the majority of medical institutions in my country. Therefore, it is necessary to create a high-throughput, high-efficiency, low-cost deafness gene mutation screening method to achieve rapid clinical detection or large-scale population screening

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