High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss
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DOI：
10.1017/s0022215108002892
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发表时间：
2009-03-01
影响因子：
1.7
通讯作者：
Panda, N. K.
中科院分区：
文献类型：
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作者：
Khandelwal, G.;Bhalla, S.;Panda, N. K.
目的：确定北印度人群中先天性非综合征性感音神经性听力损失受试者中 GJB2 突变的患病率。材料和方法：这是一项病例对照研究，研究了三种最常见的 GJB2 突变（35delG、W24X 和 1.67delT）的频率。进行聚合酶链反应限制性片段长度多态性测定来检测这些突变。对所有患者及其任何表现出 GJB2 突变的家庭成员的 GJB2 基因的整个编码区进行了测序。结果：发现 35delG 突变是最常见的突变（21%），其次是 W24X 突变（7%）。这是印度人群中首次报道 35delG 突变。一名患者是 35delG/W24X 的复合杂合子。在任何患者中均未观察到 167delT 突变。结论：这些发现挑战了经典观点，即 GJB2 基因的 W24X 变体代表单一“创始”突变。
Objective: To determine the prevalence of GJB2 mutations among subjects with congenital, non-syndromic, sensorineural hearing loss, within a north Indian population.Materials and methods: This was a case-control study in which the frequencies of the three most prevalent GJB2 mutations (35delG, W24X and 1.67delT) were studied. Polymerase chain reaction restriction fragment length polymorphism assays were performed to detect these mutations. The entire coding region of the GJB2 gene was sequenced in all patients, and also in any of their family members who showed GJB2 mutations.Results: The 35delG mutation was found to be the most prevalent mutation (21 per cent), followed by the W24X mutation (7 per cent). This is the first report of the 35delG mutation in an Indian population. One patient was a compound heterozygote for 35delG/W24X. The 167delT mutation was not observed in any patient.Conclusions: These findings challenge the classical view that the W24X variant of the GJB2 gene represents a single 'founder' mutation.