Deafness susceptible gene GJB2 235delC and 299delAT mutant detection kit

Abstract

The invention discloses a deafness susceptible gene GJB2 235delC and 299delAT mutant detection kit which comprises amplification reagents and a series of standard substances, wherein the amplification reagents comprise a reaction mixture of a PCR (polymerase chain reaction) buffer solution, MgCl2 and dNTPs (deoxyribonucleotide triphosphates), Taq enzyme, ultrapure water, and high-specificity amplified GJB2:235delC and 299delAT; and the series of standard substances comprise a 235delC typing standard substance and a 299delAT typing standard substance. By using the 2 deafness susceptible gene sites as the detection objects, the deafness susceptible gene sites are subjected to amplification and fluorescence quantitative detection and are compared with the genotyping standard substances to screen out individuals containing the site mutants and determine the genotype. The kit has important meanings for screening deafness susceptible genes and especially newborn deafness genes.

Description

technical field [0001] The invention relates to a kit for detecting mutations of deaf susceptibility genes GJB2235delC and 299delAT, belonging 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 susceptibility genes for deafness play a...

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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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