新疆喀什地区629例非综合征型耳聋患者常见耳聋基因调查研究

孙捷; 陈俞; 张华; 温浩

doi:10.13201/j.issn.1001-1781.2017.08.012

新疆喀什地区629例非综合征型耳聋患者常见耳聋基因调查研究

- 1 新疆医科大学第一附属医院耳鼻咽喉头颈外科(乌鲁木齐, 830000);
- 2 新疆医科大学第一附属医院肝胆外科
基金项目:
新疆维吾尔自治区科技厅自然科学基金 (No:2013211A102)

国家自然科学基金 (No:20130216-08)

详细信息

通讯作者: 张华,E-mail:Hzhang1106@yahoo.com.cn; 温浩,E-mail:271106@yahoo.com.cn

中图分类号: R764.43

收稿日期: 2016-12-28

Epidemiological analysis of GJB2,SLC26A4,mtRNA,GJB3 in nonsyndromic hearing loss in Kashi in Xinjiang

- 1 Department of Otolaryngology Head and Neck Surgery, 1st Affiliated Hospital, Xinjiang Medical University, Urumqi, 830000, China;
- 2 Department of General Surgery, 1st Affiliated Hospital, Xinjiang Medical University

More Information

Corresponding authors: ZHANG Hua ; WEN Hao

Received Date: 28 December 2016

摘要

摘要: 目的: 研究新疆喀什地区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: 对新疆喀什地区629例重度、极重度非综合征型感音神经性聋患者,用晶芯耳聋基因试剂盒进行GJB2、SLC26A4、mtRNA、GJB3基因10个位点检测,检测阴性患者继续GJB2耳聋基因外显子测序。结果: 629例患者中,GJB2基因突变检出率最高,为60.29%(41/68);SLC26A4为8.82%(6/68);mtRNA为30.88%(21/68);GJB3为0%(0/68)。结论: GJB2基因、SLC26A4、线粒体基因mtRNA为新疆喀什地区非综合征型耳聋常见致病基因。
- 非综合征型耳聋 /
- 耳聋基因 /
- Sanger测序
Abstract: Objective: To investigate the epidemiological analysis of the GJB2,SLC26A4,mtRNA and GJB3 gene in nonsyndromic hearing loss in Kashi in Xinjiang.Method: In this study, we analyzed the mutations of GJB2, SLC26A4, mitochondrial mtRNA and GJB3 gene mutations in 629 cases of patients with nonsyndromic hearing loss in Kashi in Xinjiang by using the gene kit.Result: The proportion of GJB2 gene mutation was 60.29%(41/68), the SLC26A4 and mtRNA were 8.82%(6/68)and 30.88%(21/68)respectively.Conclusion: GJB2 gene, SLC26A4, mtRNA gene are common cause of nonsyndromic hearing loss in Xinjiang.
- nonsyndromic hearing loss /
- deafness gene /
- Sanger sequence

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