The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
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DOI：
10.1097/gim.0b013e31804d2371
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发表时间：
2007-05-01
影响因子：
8.8
通讯作者：
Wong, Lee-Jun
中科院分区：
文献类型：
--
作者：
Dai, Pu;Yu, Fei;Wong, Lee-Jun
目的：GJB2基因突变是迄今为止研究人群中非综合征性听力障碍患者中最常见的突变。然而，突变的流行率在不同的种族群体之间存在差异。在中国的大部分地区，由于缺乏关于非综合征性听力障碍的分子病因的信息，目前还没有非综合征性听力障碍的基因检测。本研究的目的是确定中国聋儿中常见的GJB2突变235delC的患病率。研究方法：我们收集了来自中国26个地区的3004例非综合征性听力障碍患者的DNA标本，其中368例汉族人和98例维吾尔族对照，并筛选了235delC突变。用聚合酶链反应扩增GJB2基因的编码外显子，然后用Apal进行限制性内切酶酶切，并通过琼脂糖凝胶分析。结果如下：总的来说，488例患者（16.3%）被确定携带至少一个235delC突变等位基因，其中233例（7.8%）为纯合子，255例（8.5%）为杂合子。因此，在所检查的亚群内，235delC纯合子的频率从0%至14.7%变化，杂合子的频率从1.7%至16.1%变化。基于上述患者队列调查，中国非综合征性听力损害患者的235delC频率似乎高于其他亚洲人群。结论：这些结果表明，一种简单快速的GJB2基因突变的基因检测方法可以用于至少200万中国非综合征性听力障碍患者及其家庭成员。通过筛选常见的GJB2 235delC突变，在中国某些地区，高达15%的非综合征性听力损伤患者的分子病因可以被确定。此外，235 delC突变呈阴性的患者将成为GJB 2或其他耳聋相关基因进一步突变分析的候选人。
Purpose: Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment in populations studied to date. However, the prevalence of mutations varies among different ethnic groups. In most areas of China, genetic testing for nonsyndromic hearing impairment is currently not available because of the lack of information regarding the molecular cause of nonsyndromic hearing impairment. The purpose of this study is to determine the prevalence of a common GJB2 mutation, 235delC, in Chinese deaf children. Methods: We collected DNA specimens from 3004 patients with nonsyndromic hearing impairment from 26 regions of China; 368 Han Chinese and 98 Uigur controls, and screened for the 235delC mutation. The coding exon of the GJB2 gene was polymerase chain reaction amplified, followed by restriction enzyme digestion with Apal and analysis by agarose gel. Results: Overall, 488 patients (16.3%) were determined to carry at least one 235delC mutant allele, with 233 (7.8%) homozygotes and 255 (8.5%) heterozygotes. Therefore, within the subpopulations examined, the frequency varies from 0% to 14.7% for 235delC homozygotes and from 1.7% to 16.1% for heterozygotes. On the basis of this survey of the patient cohort as stated, Chinese patients with nonsyndromic hearing impairment appear to have a relatively higher 235delC frequency than that of other Asian populations. Conclusion: These results demonstrate that an easy and fast genetic testing method for this well-known GJB2 gene mutation can be made available for at least 2 million Chinese patients and family members with nonsyndromic hearing impairment. By screening for the common GJB2 235delC mutation., the molecular cause in as high as 15% of patients with nonsyndromic hearing impairment in certain regions of China can be identified. In addition, patients who are negative for the 235delC mutation would be candidates for further mutational analysis of GJB2 or other deafness-related genes.