非综合征性聋突变热点的流行病学分析

A literature review of epidemiological studies on mutation hot spots of Chinese population with non-syndromic hearing loss

目的:了解耳聋基因突变热点在中国患者中的分布特征,以建立针对突变热点的区域性基因筛查方案。方法:运用万方和Pubmed等检索2006-2011年上半年国内报道的中国各地区人群耳聋相关基因GJB2、SLC26A4、mtDNA突变流行病学文献,对文献中的样本量、样本特征、地域分布、突变频率等多个因素进行统计分析。结果:检索到相关文献46篇,纳入该统计分析42篇,研究区域涉及中国20个省、市、自治区和直辖市,调查人群均为非综合征型感音神经性聋患者;样本总量18 094例,GJB2 235delC突变频率为16.34%,GJB2299-300delAT突变频率为4.75%;SLC26A4IVS7-2A>G突变频率为12.60%,SLC26A4 2168A>G突变频率为2.32%;mtDNA 1555A>G突变频率为5.21%,mtDNA 1494C>T突变频率为1.11%。6个耳聋基因突变热点在非综合征性聋中总的突变频率约为42.00%,不同区域间差异有统计学意义(P<0.05)。结论:中国耳聋突变频率的流行病学调查统计显示上述6个位点为中国人群非综合征性聋突变热点,可根据各地区具体突变特点从中选择适合的位点进行基因筛查。

Objective：To identify the regional mutation hot spots characteristics,and then to establish a regional genetic screening programs.Method：Molecular epidemiological literatures about Chinese deafness gene GJB2,SLC26A4,mitochondrial DNA mutations from 2006 to the first half of 2011 were retrieved in Wanfang and Pubmed literature database.The primary data of these studies including the number of samples,demographic characteristics,mutation frequencies and so on,were analyzed statiscally.Result：Of 46 papers,42 were included in this study.The patients all had non-syndromic sensorineural hearing loss and lived in 20 regions of China.A total of 18 094 were counted and the average mutation frequencies were approximately 42.0%.The mutation frequencies of 235 delC were 16.34%,299-300 delAT were 4.75% in GJB2 gene and IVS7-2AG were 12.60%,2168AG were 2.32% in SLC26A4 gene and the mutation frequencies of 1555AG,1494CT in mtDNA were 5.21%,1.11% respectively.The statistical discrepancy was significant among mutation frequencies in different regions by χ~2-test（P0.05）.Conclusion：Molecular epidemiological statistics show that the 6 locus are the mutation hot spots in Chinese people with non-syndromic hearing loss and can be used for genetic screening according to the specific regional mutation characteristics.