A fluorescence detection kit for detecting deafness susceptibility gene 12S rRNA 1555A>G and application thereof

Abstract

The present invention discloses a fluorescence detection kit for detecting deafness susceptibility gene 12S rRNA 1555A>G, comprising a pre-amplification reagent and a post-amplification reagent, wherein the reagent before amplification includes a PCR buffer solution, a reaction mixture of MgC12 and dNTPs, a Taq enzyme, an ultra pure water, and a primer mixture for high- specificity amplification of 12S rRNA 1555A>G and Amelogenin loci; the post-amplification reagent includes a genotyping standard and an internal standard. The detection kit, with the loci of 12S rRNA 1555A>G and Amelogenin as detection objects, can screen out individuals having mutation at the above loci through the amplification of the deafness susceptibility gene locus, detection by capillary electrophoresis, and comparison between the detection object and the genotyping standard. The detection kit is of great significance to detection of deafness susceptibility gene and greater significance to deafness gene screening of the neonate. The detection kit is the first in the field of deafness gene screening to comprehensively combine fluorescence labeling technology, LNA nucleoside monomer incorporation-primer modification technology and capillary electrophoresis technology to realize detection of the deafness susceptibility gene locus 12S rRNA 1555A>G with high sensitivity and specificity.

Description

technical field [0001] The invention relates to a fluorescent detection kit for detecting the susceptibility gene 12S rRNA 1555A>G and the Amelogenin locus of deafness, and belongs to the technical field of biological detection. Background technique [0002] Worldwide studies on the pathogenic factors of hearing and speech disabilities show that about 60-80% of the patients are caused by genetic factors, and clinical research data from developed countries show that hereditary deafness accounts for about 80% of deafness patients. Therefore, in the past ten years, the research on the pathogenesis and molecular epidemiology of hereditary deafness has become one of the most important contents of deaf research. With the completion of the Human Genome Project, great progress has been made in the positioning and cloning of deafness genes. The molecular genetics research and molecular epidemiological data of deafness have enabled researchers to gradually realize that mutations in...

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Problems solved by technology

These methods have different defects, such as cumbersome operation, difficult interpretation of results, poor repeatability, many false negatives and false positives, etc.

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