蒙古族耳聋患者中常见致聋基因突变分析

目的探讨常见耳聋基因GJB2、线粒体DNA12SrRNA基因SLC26A4在蒙古族耳聋患者中的突变特点。方法收集64例蒙古族耳聋先证者进行GJB2、SLC26A4、mtDNA12SRNA三种常见的耳聋致病基因分子流行病学调查和基因型分析。结果 2例GJB2基因纯合突变均为235delC/235delC,复合杂合突变2例,杂合突变1例;SLC26A4基因纯合突变4例均为919-2A>G/919-2A>G,复合杂合突变4例,杂合突变7例。线粒体DNA12SrRNA1494和1555位点未检测到突变。64例蒙古族耳聋先证者GJB2、SLC26A4和线粒体DNA12SrRNA三种基因突变携带率分别为7.81%(5/64)、23.44%(15/64)和0。突变率最高的基因为SLC26A4(75%,15/20),而在突变基因中GJB2基因占25%(5/20)。结论本组蒙古族非综合征型聋患者三种常见聋病基因中突变率最高的基因是SLC26A4,其次为GJB2基因,而线粒体DNA12SrRNA基因未检出突变。

The Mutation Analysis of the Common Deafness Gene in the Mongolian Deafness Patients

Objective To analyze the genotype features of the common deafness gene GJB2,SLC26A4 and the mitochondrial DNA 12SrRNA in the Mongolian deafness patients.Methods Sixty-four Mogolian patients were detected the mutation of the GJB2,SLC26A4 and the 1494 locus and 1555 locus of the mitochondrial DNA 12SrRNA.Results The two homozygous mutant genotype of GJB2 was 235delC/235delC,and two were the compound heterozygous.Four patients were detected the 919-2A>G heterozygous mutation of SLC26A4 gene,seven were the comfound heterozygous,and four were heterozygous.The 235delC mutation rates were fifteen percents of all mutation locus.Zero percent in mitochondrial DNA 12SrRNA.The mutation frequency of GJB2 gene,SLC26A4 gene and the mitochondrial DNA 12SrRNA were 7.8%,23.4%,0,respectively.Conclusion The SLC26A4 gene had the highest mutant rates among the three common deafness genes,and the second was GJB2 gene.No mutation was detected in mitochondrial DNA 12SrRNA.