Deafness susceptible gene mitochondrion 12SrDNA 1555A>G and 1494C>T mutant ratio detection kit

Abstract

The invention discloses a deafness susceptible gene mitochondrion 12SrDNA 1555A>G and 1494C>T mutant ratio 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 a high-specificity amplified mitochondrion 2SrDNA:1494C>T and 1555A>G primer mixture; and the series of standard substances comprise a 1494C>T mutant ratio standard substance and a 1555A>G mutant ratio 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 mutant ratio standard substances to screen out individuals containing the site mutants and determine various mutant ratios. 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 the mutation ratio of 12SrDNA1555A>G and 1494C>T mutations of the deaf susceptibility gene mitochondria, 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 mutatio...

AI Technical Summary

Problems solved by technology

For the detection of the mutation ratio of mitochondrial DNA, mass spectrometry can detect about 5% of the mutations, while the selection ability of sequencing and gene chips for mutant mitochondria can only reach about 20%, and it is difficult to distinguish samples with lower mutation ratios

Images