Genetics Department, School of Medicine, Tarbiat Modares University, Tehran, Iran.
Int J Audiol. 2009;48(6):363-70. doi: 10.1080/14992020802607449.
GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. However, a few mutations have an ethnic-specific background. We performed a review by means of a meta-analysis to evaluate the influence of the 35delG on ARNSHL. A PubMed, InterScience, British Library Direct, and Sciencedirect search using keywords '35delG', 'GJB2' and 'Connexin 26' associated with 'carrier frequency' was carried out to include all papers from February 1998 to February 2008. 35delG carrier frequencies in 23187 random controls were analysed and categorized, corresponding with geographical boundaries, from all over the world. Mean carrier frequencies of 35delG mutation were found to be 1.89, 1.52, 0.64, 1, and 0.64 for European, American, Asian, Ocean, and African populations, respectively. We found that the average 35delG carrier frequency is highest in southern Europe and lowest in eastern Asia. The south-to-north European gradient in the carrier frequency of 35delG was confirmed and also a west-to-east Asian gradient is suggested. This study highlights the importance of establishing prevalence, based on the local population for screening and diagnostic programs of live births.
GJB2 突变是许多人群常染色体隐性非综合征型听力损失（ARNSHL）的主要原因。然而，有一些突变具有特定种族的背景。我们通过荟萃分析进行了一项综述，以评估 35delG 对 ARNSHL 的影响。使用关键字“35delG”、“GJB2”和“Connexin 26”，在 PubMed、InterScience、British Library Direct 和 Sciencedirect 上进行了搜索，以包括 1998 年 2 月至 2008 年 2 月的所有论文。分析了来自世界各地的 23187 名随机对照者的 35delG 携带者频率，并根据地理边界进行了分类。发现 35delG 突变的平均携带者频率分别为 1.89、1.52、0.64、1 和 0.64，分别为欧洲、美洲、亚洲、大洋洲和非洲人群。我们发现，35delG 携带者频率在南欧最高，在东亚最低。证实了 35delG 携带者频率的南欧到北欧梯度，也提示了东亚的西到东梯度。本研究强调了根据当地人群建立流行率对于新生儿筛查和诊断计划的重要性。
