Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients
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DOI：
10.1016/j.ijporl.2008.05.007
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发表时间：
2008-09-01
影响因子：
1.5
通讯作者：
Lee, S. H.
中科院分区：
文献类型：
--
作者：
Lee, K. Y.;Choi, S. Y.;Lee, S. H.
目的：GJB 2、GJB 6和SLC 26 A4基因突变是许多人群中听力丧失的常见原因。然而，鲜为人知的是听力折腾在韩国population.Methods的遗传原因：我们测序的GJB 2和GJB 6基因，以检查在这些基因中的22例听力损失患者的突变率。我们还测序了7例内耳畸形，包括扩大前庭水管（伊娃）由计算机断层扫描revealed.Results：GJB 2编码序列突变被确定在13.6%的患者筛选的SLC 26 A4基因。在3例无关患者中发现了2种不同的突变，235 delC和T86 R。在我们的患者组中，235 delC是最普遍的突变，等位基因频率为6.9%。GJB 6基因未发现突变，包括342-kb缺失。在伊娃患者中鉴定了三种不同的SLC 26 A4变体，包括一种新变体。突变4例伊娃患者携带两个突变等位基因的SLC 26 A4，并在所有患者中至少有一个等位基因是H723 R突变，占所有突变等位基因的75%.Conclusions：我们的研究结果表明，GJB 2和SLC 26 A4突变一起构成了韩国人群先天性听力损失的主要原因。进一步的研究可能能够确定其他常见的变异，这些变异在韩国人群中占很大比例。(C)2008爱思唯尔爱尔兰有限公司保留所有权利。
Objectives: Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing toss in a number of populations. However, little is known about the genetic causes of hearing toss in the Korean population.Methods: We sequenced the GJB2 and GJB6 genes to examine the rote of mutations in these genes in 22 hearing loss patients. We also sequenced the SLC26A4 gene in seven patients with inner ear malformations, including enlarged vestibular aqueduct (EVA) revealed by computer tomography.Results: Coding sequence mutations in GJB2 were identified in 13.6% of the patients screened. Two different mutations, 235delC and T86R were found in three unrelated patients. The 235delC was the most prevalent mutation with an allele frequency of 6.9% in our patient group. No mutations, including 342-kb deletion, were found in GJB6 gene. Three different variants of SLC26A4 were identified in the EVA patients, including one novel. mutation. Four EVA patients carried two mutant alleles of SLC26A4, and at least one allele in all patients was the H723R mutation, which accounted for 75% of all mutant alleles.Conclusions: Our results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population. Further studies may be able to identify other common variants that account for a significant fraction of hearing toss in the Korean population. (C) 2008 Elsevier Ireland Ltd. All rights reserved.