318例中国汉族非综合征性耳聋患者基因突变谱分析

doi:10.3969/j.issn.1006-9771.2016.12.019

Abstract

Abstract: Objective To define the mutation spectra of deafness gene in 318 Chinese Han population with nonsyndromic hearing loss (NSHL).Methods From October, 2015 to April, 2016, anticoagulant venous whole blood of 318 patients with NSHL were collected. The genes including GJB2, SLC26A4, GJB3 and 12Sr RNA were detected with polymerase chain reaction (PCR) and Matrix Assisted Laser Desorption/Ionization Time-Of-Fight Mass Spectrometry (MALDI-TOF MS).Results Among these patient, 111 cases (34.9%) had GJB2 mutations, in which the mutation carrying rate of 235delC was the highest (25.47%), 43 cases (13.5%) had SLC26A4 mutations, 3 cases (0.94%) had GJB3 mutations, and 12 cases (3.77%) had mitochondria 12Sr RNA mutations.Conclusion Definition of mutation spectrum among different populations with NSHL is important for development of optimal genetic screening services for congenital hearing impairment.

Key words: nonsyndromic hearing loss, gene mutation, Matrix Assisted Laser Desorption/Ionization Time-Of-Fight Mass Spectrometry

CLC Number:

R246.81

WANG Yi , CHEN Lei , LIU Zhi-zhong, ZHANG Hai-yan , MA Juan. Mutation Spectra of Genes in 318 Chinese Han Population with Nonsyndromic Hearing Loss　[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2016, 22(12): 1451-1450.

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Mutation Spectra of Genes in 318 Chinese Han Population with Nonsyndromic Hearing Loss

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