Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
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临沂市非综合征性耳聋患者常见耳聋基因SNPscan突变分析
DOI：
10.1155/2016/1302914
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发表时间：
2016
影响因子：
--
通讯作者：
Wang H
中科院分区：
文献类型：
--
作者：
Zhang F;Xiao Y;Xu L;Zhang X;Zhang G;Li J;Lv H;Bai X;Wang H
听力损失是一种常见的感觉障碍，至少50%的病例是由于遗传病因。虽然有数百个基因与非综合征性听力损失相关，但GJB2、SLC26A4和mtDNA12SrRNA是主要的贡献者。然而，这些常见的耳聋基因的突变谱在不同的种族群体中存在差异。本工作总结了这三个基因的突变和他们的患病率在339例非综合征性听力损失在三个不同的特殊教育学校和一个儿童医院在临沂，中国。采用一种新的多重遗传学筛查系统“SNPscan分析”检测了上述三个基因共115个突变。最后，48.67%的患者被确定为GJB2，SLC26A4和mtDNA12SrRNA突变引起的遗传性听力损失。这三个基因的突变携带率分别为37.76%、19.75%和4.72%。本研究中的突变谱与中国其他地区不同，GJB2的高突变率表明该地区具有独特的突变谱。
Hearing loss is a common sensory disorder, and at least 50% of cases are due to a genetic etiology. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss, GJB2, SLC26A4, and mtDNA12SrRNA are the major contributors. However, the mutation spectrum of these common deafness genes varies among different ethnic groups. The present work summarized mutations in these three genes and their prevalence in 339 patients with nonsyndromic hearing loss at three different special education schools and one children's hospital in Linyi, China. A new multiplex genetic screening system “SNPscan assay” was employed to detect a total of 115 mutations of the above three genes. Finally, 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. The carrying rate of mutations in the three genes was 37.76%, 19.75%, and 4.72%, respectively. This mutation profile in our study is distinct from other parts of China, with high mutation rate of GJB2 suggesting a unique mutation spectrum in this area.