SNaPshot kit for detecting polymorphism of deafness genes of 22 sites

Abstract

The invention provides a SNaPshot kit for detecting polymorphism of deafness genes of 22 sites. Polymorphism sites of detected deafness genes comprise GJB2 gene sites rs80338939, rs80338942, rs80338943, rs111033204, 176_191del16, c.35dupG and 508_511dupAACG; GJB3 genes rs74315318 and rs74315319; SLC26A4 genes rs111033220, rs201562855, rs111033305, rs192366176, rs111033318, rs121908362, rs121908363, rs200455203, rs111033380, rs111033313 and c.281C greater than T; mitochondrion DNA (Deoxyribonucleic Acid) rs267606619 and rs267606617.

Description

technical field [0001] The invention relates to the fields of molecular biology diagnosis and genetic disease. Specifically, the present invention provides a SNaPshot kit for detecting multiple deafness gene polymorphisms. Background technique [0002] Congenital deafness is one of the most common birth defects and the most common human sensory system disorder, with an incidence of 0.1%-0.3%. 60% of deafness is related to genetic factors. Among these genetic factors, GJB2, SLC26A4, GJB3 genes and mitochondrial DNA m.1555A>G and m.1494C>T sites were mainly included. In the screening of newborn deafness gene mutations in China, the GJB2 gene mutation has a high carrier rate of about 2.6%, the SLC26A4 gene mutation carrier rate is about 1.9%, and the mitochondrial DNA m.1555A>G homogeneous mutation of newborns accounts for 0.1%. , GJB3 gene mutations are only found in a small number of patients. [0003] Cx26 encoded by the GJB2 gene is expressed in the cochlea, lo...

AI Technical Summary

Problems solved by technology

What is more complicated than the general PCR method is that there are many factors to be considered in the design of Snapshot detection system, especially the multiplex Snapshot detection system: primer length, Tm value, tail structure selection, and the ratio of template to primer may cause non-specific amplification and Subsequent base miscalls

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