Hereditary hearing loss gene mutation detection kit

Abstract

The invention a mutation detection kit used for performing qualitative detection on 20 gene loci related to hearing loss in a genome DNA. The kit comprises a DNA diluent, a hybridization reaction liquid, a hearing loss probe mixed liquid A, a hearing loss probe mixed liquid B, a connecting reaction liquid A, ligase, a connecting reaction liquid B, polymerase, a PCR amplification primer mixed liquid, positive control, and negative control. The kit provided by the invention performs gene mutation detection mainly by combination of a multiplex ligation-dependent probe amplification (MLPA) technology and capillary electrophoresis, so that multiple mutation loci can be detected at the same time; wild type, homozygous mutation type and heterozygosis mutation type of 20 loci can be accurately determined by two tubes concurrently; and meanwhile, a primer probe is also designed, so that quite high accuracy and specificity are achieved.

Description

technical field [0001] The invention belongs to the field of biotechnology, and mainly embodies the application of MLPA method combined with sequencing technology, and in particular relates to the detection of non-synthetic hereditary deafness gene polymorphism site. Background technique [0002] According to the statistics of developed countries, there is one hearing-impaired patient in every 1,000 newborns. In my country, there are more than 27.8 million people with hearing and speech disabilities, accounting for 24.16% of the total number of disabled people, and 30,000 deaf children are born every year. Studies speculate that 60% of deafness is genetically related, and more than 120 deafness genes have been identified. Therefore, more and more countries are carrying out genetic screening for newborn deafness. With the promulgation of the "Outline for the Development of Chinese Women (2011-2020)" and "The Outline for the Development of Chinese Children (2011-2020)" issue...

AI Technical Summary

Problems solved by technology

The main methods used are fluorescent labeling and ARMS-PCR. The multiplex PCR system is used for detection. This method is fast and simple. However, the reagent is not accurate for judging adjacent mutation sites. At the same time, due to the use of four-color fluorescent labeling, Increased difficulty in instrument requirements, these characteristics limit the breadth of its application

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