新型多基因检测技术对内蒙古自治区355例非综合征性聋患者的检测分析

张迪; 段宏; 袁慧军; 韩东一

doi:10.13201/j.issn.1001-1781.2015.22.003

新型多基因检测技术对内蒙古自治区355例非综合征性聋患者的检测分析

- 1. 解放军总医院耳鼻咽喉头颈外科耳鼻咽喉科研究所(北京, 100853);
- 2. 天津市第一中心医院耳鼻咽喉头颈外科天津市耳鼻喉科研究所;
- 3. 第三军医大学西南医院医学遗传中心
基金项目:
国家重点基础研究发展计划(973计划)项目(No:2013CB945402)

详细信息

通讯作者: 袁慧军,E-mail:yuanhj301@163.com; 韩东一

中图分类号: R764.43

收稿日期: 2015-08-02

A new method for simultaneous multi-gene mutation screening in 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region

- Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, General Hospital of People's Liberration Army, Beijing, 100853, China

More Information

Corresponding authors: YUAN Huijun ; HAN Dongyi

Received Date: 02 August 2015

摘要

摘要: 目的: 利用新型快速多基因检测技术对内蒙古自治区355例非综合征性聋患者进行分子病因筛查,了解这些非综合征性聋患者的分子病因,对新型多基因检测技术进行验证。方法: 受检人群来自内蒙古自治区多地的特殊教育学校和聋儿康复中心的重度非综合征性聋患者,共355例。利用SNPscan技术对GJB2、SLC26A4、MT-12S rRNA这3个基因的115个位点进行检测。结果: 在355例非综合征性聋患者中共找到明确基因致聋的患者89例(25.07%)。其中明确GJB2基因突变致病的患者人数为53例(14.93%),纯合突变24例(6.76%),复合杂合突变29例(8.17%)。除此之外,还发现携带GJB2基因的单杂合突变者3例(0.85%)。明确SLC26A4突变致病的患者33例(9.30%),其中纯合突变15例(4.23%),复合杂合突变18例(5.07%)。除此之外,还发现SLC26A4基因的单杂合突变携带者5例(1.41%)。线粒体DNA12SrRNA A1555G 突变6例(1.69%),未发现mtDNA12S rRNA 1494C>T突变。结论: 应用SNPscan聋基因诊断技术可以在聋患者病因调查中进行准确、快速和经济有效的诊断筛查。SNPscan检测技术为大规模遗传性聋基因检测的开展提供了很好的诊断工具,值得广泛推广应用。
- SNPscan /
- GJB2 /
- SLC26A4 /
- 线粒体突变 /
- 非综合征性聋
Abstract: Objective: Using simultaneous multi-gene mutation screening to survey the molecular epidemiological basis of 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region, we can identify the causes of their deafness,and verify the new method for simultaneous multi-gene mutation screening.Method: Three hundred and fifty-five patients with severe non-syndromic deafness from Inner Mongolia Autonomous region were included in the study. The SNPscan technology was used for screening the 115 spots mutations in three common deafness-related genes(GJB2, SLC26A4,MT-12S rRNA) of patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region.Result: In 355 patients,there were 89 cases of deafness caused by mutation (25.07%). 53 patients with the GJB2 mutations were found(14.93%),including 24 cases of homozygous mutations (6.76%),29 patients (8.17%) of compound heterozygous mutations,and 3 cases (0.85%) of single heterozygous mutations. 33 patients with the SLC26A4 mutations were found(9.30%),including 15 cases of homozygous mutations(4.23%),18 patients (5.07%) of compound heterozygous mutations,and 5 cases (1.41%) of single heterozygous mutations.mtDNA12S rRNA A1555G mutation was found in 6 patients (1.69%). mtDNA12S rRNA 1494C>T mutation was not found.Conclusion: SNPscan technology allows accurate, rapid and cost-effective diagnostic screening in patients with hearing loss for etiology investigation. The SNPscan technology can serve as a good diagnostic tool for large-scale genetic testing for hereditary deafness and should be widely applied.
- SNPscan /
- GJB2 /
- SLC26A4 /
- mitochondrial mutations /
- non-syndromic deafness

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