GJB2 35delG 突变是否起源于伊朗？
Did the GJB2 35delG mutation originate in Iran?
机构信息
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
出版信息
Am J Med Genet A. 2011 Oct;155A(10):2453-8. doi: 10.1002/ajmg.a.34225. Epub 2011 Sep 9.
Abstract
Mutations in GJB2 are a major cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of GJB2 mutations that are associated with ARNSHL in Caucasians in many European countries and also in Iranian. In this study, we used PCR and restriction digestion to genotype five single nucleotide polymorphisms (SNPs) that define the genetic background of the 35delG mutation over an interval of 98 Kbp that includes the coding and flanking regions of GJB2. Two microsatellite markers, D13S175 and D13S141, were also analyzed in patients and controls. These data suggest that the 35delG mutation originated in northern Iran.
摘要
GJB2 基因突变是许多人群常染色体隐性非综合征性听力损失（ARNSHL）的主要原因。该基因的单个突变（35delG）约占与许多欧洲国家和伊朗的高加索人群 ARNSHL 相关的 GJB2 突变的 70%。在这项研究中，我们使用 PCR 和限制性消化来对跨越包含 GJB2 编码和侧翼区域的 98 Kbp 间隔的 35delG 突变遗传背景进行 5 个单核苷酸多态性（SNP）的基因分型。还分析了两个微卫星标记 D13S175 和 D13S141 在患者和对照组中的情况。这些数据表明，35delG 突变起源于伊朗北部。
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