Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
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DOI：
10.1177/0003489415575060
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发表时间：
2015-05-01
影响因子：
1.4
通讯作者：
Usami, Shin-ichi
中科院分区：
文献类型：
--
作者：
Tsukada, Keita;Nishio, Shin-ya;Usami, Shin-ichi
目的：GJB 2和SLC26A4基因是引起耳聋的两个最常见的基因，其突变谱具有种族特异性。在这项研究中，光谱报告GJB2和SLC26A4突变在不同的人群进行审查，并考虑从人类migration perspective.Methods：五十二和17篇文章GJB2和SLC26A4突变，分别通过PubMed数据库从1996年4月至2014年9月进行审查。选择并比较了4种最常见的突变。结果：本综述的常见突变显示了种族特异性的GJB2和SLC26A4基因突变谱。GJB2和SLC26A4基因的聚类分析揭示了种族population.Conclusion之间的相似性：在这项研究中审查的突变谱清楚地表明，在GJB2和SLC26A4基因的频繁突变是符合创始人突变假说。与Y染色体系统发育树的比较表明，这些突变可能发生在人类迁移过程中。
Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the reported GJB2 and SLC26A4 mutations in different populations are reviewed and considered from a human migration perspective.Methods: Fifty-two and 17 articles on GJB2 and SLC26A4 mutations, respectively, were reviewed through the PubMed database from April 1996 to September 2014. The 4 most prevalent mutations were selected and compared. A cluster analysis was subsequently performed for these selected mutations.Results: The present review of frequent mutations shows the ethnic-specific GJB2 and SLC26A4 gene mutation spectrum. A cluster analysis of the GJB2 and SLC26A4 genes revealed similarities between ethnic populations.Conclusion: The mutation spectrum reviewed in this study clearly indicated that the frequent mutations in the GJB2 and SLC26A4 genes are consistent with the founder mutation hypothesis. A comparison with the Y-chromosome phylogenetic tree indicated that these mutations may have occurred during human migration.