湖北481例耳聋患者GJB2、SLC26A4及12S rRNA基因突变分析

Analysis of GJB2,SLC26A4 and 12S rRNA Gene Mutations in 481 Patients with Deafness in Hubei

目的研究湖北省耳聋患者GJB2、SLC26A4及12S rRNA基因的突变谱。方法采集湖北省多个地区共481例耳聋患者血液样本,应用SNPscan技术进行GJB2、SLC26A4及12S rRNA基因突变检测,明确三个常见耳聋基因突变诊断率及突变形式。结果481例患者中,共165例(165/481,34.3%)明确了遗传病因,其中18.9%(91/481)诊断为GJB2基因突变致聋,12.9%(62/481)诊断为SLC26A4基因突变致聋,2.5%(12/481)检测出12S rRNA基因突变。32例少数民族患者总体诊断率为43.8%(14/32),18.8%(6/32)为GJB2基因突变,21.9%(7/32)为SLC26A4基因突变,3.1%(1/32)为12S rRNA基因突变。结论GJB2、SLC26A4及12S rRNA基因为湖北省耳聋患者群体中常见的致病基因,GJB2基因c.235delC,SLC26A4基因c.919-2A>G,12S rRNA基因m.1555A>G为三个基因最常见致病突变形式。湖北省少数民族与汉族三个基因最常见突变形式一致。

Objective To understand the mutation spectrum of GJB2,SLC26A4 and 12S rRNA genes in Hubei.Methods Blood samples from 481 deafness patients in Hubei were collected and tested for GJB2,SLC26A4 and 12S rRNA gene mutations by SNPscan to reveal the rate and form of mutations of these three common deafness genes.Results Among the 481 patients,causal mutations were identified in 165(34.3%)patients,involving the GJB2 gene in 91(18.9%),SLC26A4 gene in 62(12.9%)and 12S rRNA in 12(2.5%).The rate of mutation diagnosis among the 32 ethnic minority patients was 43.8%(14/32),18.8%(6/32)for the GJB2 gene,21.9%(7/32)for the SLC26A4 gene and 3.1%(1/32)for the 12S rRNA gene.Conclusion The GJB2,SLC26A4 and 12S rRNA genes are common pathogenic genes in the deafness patient population in Hubei,with GJB2 c.235delC,SLC26A4 c.919-2A>G and 12S rRNA m.1555A>G being the most common mutations.Mutations of these three genes in Hubei minority patients are consistent with those in Han Chinese.