广东省非综合征耳聋患者GJA1基因及常见耳聋基因突变分析

Analysis of the mutations of GJA1 gene and other general deafness genes in patients with non-syndromic hearing impairment in Guangdong

目的:研究广东省非综合征耳聋患者常见耳聋基因突变的发病情况。方法:对来自广东省某特殊学校的73例非综合征感觉神经性耳聋患者采集外周血,对GJA1、GJB2、GJB3、SLC26A4、mtDNA12SrRNA基因编码区进行测序。结果:73例患者中检测到GJB2基因突变235delC5例;GJB3基因突变547G>A1例;SLC26A4基因突变IVS7-2A>G7例,2168A>G杂合突变1例;mtDNA12SrRNA纯合突变3例。结论:本研究为19.18%的研究对象明确了分子病因;GJB2基因突变不是本研究的主要致病基因,SLC26A4为最常见的耳聋突变基因;未检测到GJA1基因突变。

Objective To investigate the mutations of general deafness genes in patients with non-syndromic hearing impairment in Guangdong. Methods 73 patients with non-syndromic heating impairment from one deafness school in Guangdong province were included. The peripheral blood samples were obtained and the coding region of GJA1, GJB2, GJB3, GJA, SLC26A4 and mitochondrial DNA12S rRNA were amplified. Results Among the 73 patients, GJB2 235delC homozygosis was found in 5 cases ; GJB3 547G〉A was found in 1 case ; SLC26A4 IVST-2A〉 G was found in 7 cases; heterozygosis of mitochondrial DNA 12S rRNA were found in 3 cases. Conclusions The molecular etiology was ascertained in 19.18% of the 73 patients by genetic analysis; and it was not GJB2 but SLC26A4 gene was the most common pathogenic gene. The gene mutations of GJA1 were not detected.