Targeting-based new generation sequencing deafness gene detection set and kit, and detection method

Abstract

The invention discloses a targeting-based new generation sequencing deafness gene detection set and kit, and a detection method. The deafness gene detection set comprises 258 genes, 81 non CDS regions and a whole mitochondrial group. The detection method comprises the steps: designing primers for a part of or all of deafness disease genes and loci; with a to-be-tested sample DNA as a template, carrying out PCR amplification with the primers, and constructing a deafness detection gene library based on the amplified product; and according to the deafness detection gene library, establishing a sequencing template, carrying out high-throughput sequencing, and analyzing sequencing data information. The invention also discloses the related kit. Not only can conventional known mutations be detected out, but also new mutation types also can be detected out; in addition, sequencing and analysis of a large number of objective regions also can be completed within a short period of time, and positions, possible to generate pathogenic mutation, of all exons and regulatory regions of the hundreds of genes associated with deafness are subjected to related sequencing and analyzing.

Description

technical field [0001] The invention belongs to the field of genetic engineering, and in particular relates to a deafness gene detection set, kit and detection method based on targeted next-generation sequencing. Background technique [0002] Deafness is the biggest obstacle to language learning and communication, 50% to 70% of which may be related to genetic factors. Worldwide, 1 in every 1,000 births is born with congenital deafness. In developed countries, at least 50% of congenital deafness is caused by genetic factors. According to the 2012 birth defect prevention and control report of the Ministry of Health of my country, congenital hearing impairment ranks first in the current birth defects by about 1‰-3‰, and there are 900,000 new birth defects every year, and about 35,000 cases of congenital hearing impairment. There are more than 27.8 million people with hearing and speech disabilities, and the rapid growth is 20,000 to 30,000 deaf children born every year. The v...

AI Technical Summary

Problems solved by technology

However, microarray chip technology has the disadvantages of long detection cycle, relatively high detection cost, and limited ability to detect other types of mutations except point mutations.

The above strategies are not suitable for a large number of sporadic cases of deafness and small family studies, especially for some rare syndromic deafness

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