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目的调查中国各地区聋哑人群的缝隙连接蛋白β2基因(gap junction beta-2 gene,GJB2)235delC 突变的流行和分布情况,为在中国进行准确有效的耳聋基因诊断工作提供流行病学数据和经验。方法收集来自中国26个地区的3004例非综合征型聋患者以及368例汉族健康对照和98例维吾尔族健康对照,应用多聚酶链扩增-限制性酶长度多态性技术进行235delC 突变筛查。结果总计有488例(16.3%)患者带有至少一个235delC 突变等位基因,其中233例(7.8%)纯合突变,255例(8.5%)杂合突变,比较各地区耳聋人群的情况,235delC 纯合突变的频率从0%到14.7%,235delC 杂合突变的频率从1.7%至16.1%。结论调查结果显示,相对于其他亚洲人群,中国的非综合征型聋人群具有较高的235delC 突变频率。本研究结果显示针对 GJB2 235delC 突变简易快速的检测方法将可以为广大的中国耳聋群体服务,仅通过扫描这一常见突变,在某些地区高达15%的患者可以因鉴别为纯合突变型获得确诊,而235delC 杂合型患者和阴性患者则应进一步进行 GJB2全部编码序列和其他耳聋相关基因分析。
Objective To investigate the prevalence and distribution of 235delC mutation in gap junction beta-2 gene (GJB2) in deaf and mute people in various regions of China, and provide epidemiological data and experience for gene diagnosis of deafness in China . Methods 3004 cases of nonsyndromic deafness, 368 Han healthy controls and 98 Uighur healthy controls were collected from 26 regions in China. The 235delC mutation screening was performed by polymerase chain reaction amplification-restriction fragment length polymorphism (PCR-RFLP). RESULTS: A total of 488 patients (16.3%) had at least one 235delC allele, 233 (7.8%) homozygous and 255 (8.5%) heterozygous mutations. The frequencies of homozygous mutations ranged from 0% to 14.7%, and 235delC heterozygous mutations ranged from 1.7% to 16.1%. Conclusions The survey results show that Chinese non-syndromic deaf people have a higher frequency of 235delC mutations relative to other Asian populations. Our results show that a simple and rapid detection of GJB2 235delC mutation will serve the general Chinese deaf population and up to 15% of patients in some areas can be diagnosed as homozygous mutant only by scanning for this common mutation , While 235delC heterozygous patients and negative patients should be further GJB2 coding sequence and other deafness related gene analysis.