[新疆喀什非综合征性听力损失中GJB2、SLC26A4、线粒体RNA、GJB3的流行病学分析]
[Epidemiological analysis of GJB2,SLC26A4,mtRNA,GJB3 in nonsyndromic hearing loss in Kashi in Xinjiang].
作者信息
Sun J, Chen Y, Zhang H, Wen H
机构信息
Department of Otolaryngology Head and Neck Surgery, 1st Affiliated Hospital, Xinjiang Medical University, Urumqi, 830000,China.
Department of General Surgery, 1st Affiliated Hospital, Xinjiang Medical University.
出版信息
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017 Apr 20;31(8):619-622. doi: 10.13201/j.issn.1001-1781.2017.08.012.
To investigate the epidemiological analysis of the GJB2,SLC26A4,mtRNA and GJB3 gene in nonsyndromic hearing loss in Kashi in Xinjiang.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. 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. GJB2 gene, SLC26A4, mtRNA gene are common cause of nonsyndromic hearing loss in Xinjiang.
为研究新疆喀什地区非综合征性听力损失患者中GJB2、SLC26A4、线粒体mtRNA及GJB3基因的流行病学分析。本研究采用基因检测试剂盒，对新疆喀什地区629例非综合征性听力损失患者的GJB2、SLC26A4、线粒体mtRNA及GJB3基因突变情况进行分析。GJB2基因突变比例为60.29%（41/68），SLC26A4和mtRNA基因突变比例分别为8.82%（6/68）和30.88%（21/68）。GJB2基因、SLC26A4、mtRNA基因是新疆非综合征性听力损失的常见病因。
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