广州地区非综合征性耳聋患者耳聋相关基因突变分析

目的分析广州地区非综合性耳聋患者相关耳聋基因突变,初步了解广州地区耳聋患者发病的分子机制。方法详细询问病史和临床检查后,收集广州地区52例非综合性耳聋患者的外周血,提取基因组DNA,用遗传性耳聋基因芯片对4个常见耳聋相关基因(GJB2、SLC26A4、线粒体12SrRNA及GJB3基因)的9个位点进行检测。结果 52例耳聋患者中共检出18例带有耳聋基因突变,检出阳性率为34.6%,其中GJB2基因235delC纯合突变6例,杂合突变2例,299delAT纯合突变1例;SLC26A4基因IVS7-2A>G纯合突变4例,杂合突变1例;线粒体12SrRNA A1555G均质突变4例。结论广州地区非综合性耳聋患者的耳聋相关基因检出阳性率、GJB2基因及SLC26A4基因的携带率均低于全国平均水平,而线粒体基因突变的携带率明显高于全国平均水平。

Analysis of deafness-related gene mutations in nonsyndromic hearing loss patients in Guangzhou

Objective To identify the deafness-related gene mutations in patients with nonsydromic hearing loss(NSHL) in Guangzhou,and to explore the molecular pathogenic mechanism.Methods Genomic DNA samples of 52 deafness patients in Guangzhou were extracted from peripheral blood.Nine mutations of four genes(GJB2,SLC26A4,mitochondrial 12S rRNA,and GJB3) were detected by gene chip technique.Results Among 52 patients with nonsyndromic hearing loss,18 cases were found out to carry at least one pathogenic gene mutation.The positive detection rate was 34.6%.In these patients,9 cases have GJB2 mutations(235delC homozygous mutation in 6 cases,235delC heterozygous mutation in 2 cases,and 299delAT homozygous mutation in 1 case),5 cases have SLC26A4 gene mutations(IVS7-2A>G homozygous mutation in 4 cases and IVS7-2A>G heterozygous mutation in 1 case),and 4 cases have mitochondrial 12S rRNA A1555G mutations.Conclusion Incidence of GJB2 and SLC26A4 gene mutations in NSHL population in Guangzhou is below the average of the overall Chinese deaf population.The incidence of mtDNA A1555G is higher than the average of the overall Chinese deaf population.