Kokotas Haris, Grigoriadou Maria, Villamar Manuela, Giannoulia-Karantana Aglaia, del Castillo Ignacio, Petersen Michael B
Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
Genet Test Mol Biomarkers. 2010 Apr;14(2):183-7. doi: 10.1089/gtmb.2009.0146.
One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the most frequent disease mutations identified so far. The debate was so far between the arguments whether or not the 35delG mutation constitutes a mutational hot-spot or a founder effect; however, it was recently clarified that the latter seems the most likely. In an attempt to explore the origin and propagation of the 35delG mutation, several groups have reported the prevalence of the mutation and the carrier rates in different populations worldwide. It is now certain that the theory of a common founder prevails and that the highest carrier frequencies of the 35delG mutation are observed in southern European populations, giving rise to a discussion regarding the origin of the 35delG mutation. In this study, we discuss data previously published by our and other groups and also compare the haplotype distribution of the mutation in southern Europe, trying to understand the pathways of science and history and the conflict between them.
编码连接蛋白26的GJB2基因的一种特定突变，即35delG突变，已成为专注于非综合征性听力损失遗传学的科学家们的主要研究对象。该突变在白种人群中检测到的GJB2突变中占大多数，是迄今为止发现的最常见的疾病突变之一。到目前为止，争论集中在35delG突变是构成突变热点还是奠基者效应；然而，最近已明确后者似乎是最有可能的。为了探究35delG突变的起源和传播，几个研究小组报告了该突变在全球不同人群中的患病率和携带率。现在可以确定的是，共同奠基者理论占主导地位，并且在南欧人群中观察到35delG突变的最高携带频率，这引发了关于35delG突变起源的讨论。在本研究中，我们讨论了我们小组和其他小组之前发表的数据，并比较了该突变在南欧的单倍型分布，试图理解科学与历史的路径以及它们之间的冲突。
