506例新疆莎车县非综合征型耳聋患者常见耳聋基因调查研究

Investigation of common deafness genes in 506 patients with nonsyndromic hearing loss in Shache County of Xinjiang

目的掌握新疆莎车县非综合征型耳聋常见耳聋基因及其突变位点的分子流行病学及突变特征。方法针对新疆莎车县非综合征型耳聋506例中重度、极重度感音神经性耳聋患者,用晶芯耳聋基因试剂盒进行GJB2、SLC26A4、mtRNA、GJB3基因10个位点检测,检测结果阳性者采用直接测序法进一步验证。结果 506例新疆莎车县非综合征型中重度、极重度感音神经性耳聋患者中,晶芯耳聋基因试剂盒阳性检出率5.73(29/506),GJB2基因突变检出率4.55%(23/506);SLC26A4为0.79%(4/506);mtRNA为0.2%(1/506);GJB3突变率为0.2%(1/506);GJB2双等位基因突变占该人群病因的0.99%(5/506),mtRNA均质突变0.2%(1/506)。结论GJB2双等位基因突变是新疆莎车县非综合征型耳聋最为常见致病因素。

Objective To investigate the molecular epidemiology and mutation characteristics of common deafness genesin non-syndromic hearing loss （NSHL）population in Shache County of Xinjiang. Methods Mutation screening was performed on 506 cases with moderate to severe and profound sensori neural hearing loss collected in our study by GeeDom deafness gene kit. Ten commonmutation loci of four deafness-related genes GJB2, SLC26A4, mtRNA and GJB3 were detected, and the positive results were further validated by Sanger sequencing. Results Mutation screening by gene kit showed a positive rate of S. 73% in 29 of the 506 patients （29/506）. The incidences of mutations in GJB2, SLC26A4, mtRNA and GJB3 were 4.55% （23/506）, 0.79% （4/506）, 0.2% （1/506） and 0.2% （1/506） respectively. The incidence of biallelic mutations in GJB2 was 0.99% （5/506） and that of homogeneous mutations in mtRNA was 0.2% （ 1/ 506）. Conclusion GJB2 biallelic mutations are the most common molecular risk factors for non-syndromic hearing loss in Shache County of Xinjiang.