新疆维吾尔族及汉族常见耳聋基因热点突变调查结果分析比较

发布时间：2018-03-22 12:04

本文选题：遗传性耳聋　切入点：耳聋基因　出处：《中华耳科学杂志》2017年02期 　论文类型：期刊论文

【摘要】：目的探讨新疆地区维吾尔族和汉族常见耳聋基因流行病学的差异。方法本文针对新疆地区2731例非综合征型重度、极重度感音神经性耳聋患者,应用晶芯耳聋基因试剂盒,对GJB2、SLC26A4、线粒体12Sr RNA、GJB3常见耳聋基因的10个突变位点(GJB2c.235del C、c.35del G、c.176del16bp、c.299_300del AT,SLC26A4 IVS7-2、c.2168AG,GJB3 c.538CT、c.547GA,mitochondrial 12Sr RNA m.1555AG、m.1494CT)进行常见已知耳聋基因的抽样调查;结果 2731例新疆地区非综合征型重度、极重度感音神经性耳聋患者中,GJB2基因突变率7.84(214/2731),汉族10.56%(131/1241)、维吾尔族5.57%(83/1490),普遍低于全国其他研究报道,GJB2 c.235del C是汉族和维吾尔族突变热点;检出携带有SLC26A4基因突变的有132例,SLC26A4汉族、维吾尔族耳聋人群检出率分别9.51%(118/1241)、0.94%(14/1490);检出携带有12Sr RNA基因突变的有149例,汉族120例,维吾尔族29例,占各自耳聋人群检出率的9.67%(120/1241)、1.95%(29/1490)。结论 GJB2基因、SLC26A4、线粒体基因12Sr RNA为新疆非综合征型耳聋常见致病基因,GJB2c.235del C是汉族和维吾尔族突变热点,携带杂合突变的耳聋患者可能有其他基因突变致聋的可能。
[Abstract]:Objective to explore the genetic epidemiology of common deafness in Uygur and Han nationality in Xinjiang. Methods 2731 patients with severe or extremely severe sensorineural deafness in Xinjiang were studied by using crystal core deafness gene kit. Ten mutation sites of common deafness gene GJB2c. 235del cor c. 176del16bpc. 299300del ATSLC26A4 IVS7-2A4 c. 2168AGGJB3 c. 538CTGJB3 c.538CTGJB3 c. 547GAX were sampled and investigated in 2731 cases of severe non-syndromic type of deafness in Xinjiang. The mutation rate of GJB2 gene in patients with extremely severe sensorineural hearing loss was 7.84% 214 / 2731%, 10.56% of Han nationality was 131 / 1241%, and 5.5775% 1490% of Uygur nationality, which was generally lower than that reported by other studies in China. The mutation of GJB2 c.235del C was a hot spot of Han and Uygur nationality, and 132 cases of Han nationality with SLC26A4 gene mutation were found to be SLC26A4. The detectable rate of deafness in Uygur population was 9.51% and 0.94% respectively, 14 / 1490% of them were found to have 12Sr RNA gene mutation, 120 cases were Han nationality and 29 cases were Uygur nationality. Conclusion GJB2 gene SLC26A4, mitochondrial gene 12Sr RNA is the common pathogenic gene of Xinjiang non-syndromic deafness, GJB2c.235del C is the hot spot of mutation in Han and Uygur nationality. Deafness patients with heterozygous mutations may be deafened by other gene mutations.
【作者单位】：新疆医科大学第一附属医院耳鼻咽喉头颈外科学;新疆医科大学第一附属医院包虫病防诊治中心;新疆包虫病临床研究所;
【基金】：新疆维吾尔自治区科技厅自然科学基金2013211A102~~
【分类号】：R764.43

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