青海省回、藏、土、蒙古族非综合征型聋患者致聋基因SNPscan法检测分析

The Mutation Analysis of Common Deafness Genes Using SNPscan Technology in Nonsyndromic Hearing Loss Patients of Minority Ethnicities in Qinghai Province

段世宏;李勇;马建鹂;杨小龙;郭玉芬;

1:兰州大学第二医院耳鼻咽喉科

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摘要

目的调查GJB2、SLC26A4和mtDNA12SrRNA基因突变在青海省回、藏、土、蒙古族非综合征型聋患者中的突变谱和突变频率。方法采集青海省回族(123例)、藏族(44例)、土族(34例)及蒙古族(10例)共211例非综合征型聋患者及180例正常人(对照组,其中回族100例,藏族40例,土族30例,蒙古族10例)的外周静脉血,提取基因组DNA,应用SNPscan法检测GJB2基因2个外显子36个突变位点、SLC26A4基因21个外显子77个突变位点和mtDNAA1555G及mtDNAC1494T突变。结果 211例耳聋患者中,5例土族和1例蒙古族患者携带mtDNAA1555G均质性突变;回族、藏族、土族和蒙古族患者GJB2基因突变检出率分别为11.38%、4.55%、5.88%和10%,各民族间差异无统计学意义(均为P>0.05)。土族和蒙古族耳聋患者GJB2基因最常见的突变形式为c.235delC,等位基因频率分别为2.94%和5%;回族耳聋患者最常见的突变形式为c.299_300delAT,等位基因频率为4.47%。回族、藏族和土族患者SLC26A4基因突变检出率分别为6.5%、4.55%和2.94%,三个民族间差异无统计学意义(均为P>0.05);回族耳聋患者SLC26A4主要突变为c.919-2A>G,等位基因频率为2.44%;藏族耳聋患者SLC26A4的主要突变为c.1226G>A,等位基因频率为2.27%。正常对照组除了回族中有1例携带GJB2基因c.235delC杂合突变,1例携带SLC26A4基因c.919-2A>G中等位基因突变,其余三个民族均未检测出GJB2、SLC26A4基因突变。结论青海省回、藏、土及蒙古族非综合征型聋患者中10.9%(23/211)是由GJB2、SLC26A4和mtDNA A1555G基因突变导致,GJB2和SLC26A4基因突变在该地区4个少数民族非综合征型聋患者中的致病具有民族特异性。

关键词

非综合征型耳聋;突变;常见致聋基因;少数民族

基金项目(Foundation):

作者

段世宏;李勇;马建鹂;杨小龙;郭玉芬;

参考文献

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非综合征型耳聋突变常见致聋基因少数民族

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