A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.

ABSTRACT:

Background

Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required.

Methods

We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)-associated genes in the Chinese population. The PCR-RDB assay consists of multiplex PCR amplifications of 10 fragments in the target sequence of the four above-mentioned genes in wild-type and mutant genomic DNA samples followed by hybri

SUBMITTER: Li S 

PROVIDER: S-EPMC5432070 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature