在患有先天性听力障碍的印度先证者中发现的GJB2和GJB6基因突变。
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.
作者信息
Padma G, Ramchander P V, Nandur U V, Padma T
机构信息
Department of Genetics, Osmania University, Tarnaka, Hyderabad 500 007, India.
出版信息
J Genet. 2009 Dec;88(3):267-72. doi: 10.1007/s12041-009-0039-5.
Genetically caused deafness is a common trait affecting one in 1000 children and is predominantly inherited in an autosomalrecessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. In the present study, 303 nonsyndromic hearing-impaired patients (140 familial; 163 sporadic) were examined clinically and screened for mutations in GJB2 and GJB6 genes. Mutations in GJB2 gene were found in 33 (10.9%) patients of whom six (18.2%) were carriers for the mutant allele. The most frequent mutation was p.W24X accounting for 87% of the mutant alleles. In addition, six other sequence variations were identified in the GJB2 gene viz., c.IVS1+1G>A, c.167delT, c.235delC, p.W77X, p.R127H (polymorphism), p.M163V. None of the samples showed del(GJB6-D13S1830) or any point mutations in GJB6 gene.
遗传性耳聋是一种常见性状，每1000名儿童中就有1人受其影响，且主要以常染色体隐性方式遗传。在全球范围内，已在听力受损患者中鉴定出GJB2基因的几种突变以及GJB6基因中的342 kb缺失（delGJB6-D13S1830）。在本研究中，对303名非综合征性听力受损患者（140名家族性患者；163名单发性患者）进行了临床检查，并对GJB2和GJB6基因的突变进行了筛查。在33名（10.9%）患者中发现了GJB2基因突变，其中6名（18.2%）是突变等位基因的携带者。最常见的突变是p.W24X，占突变等位基因的87%。此外，在GJB2基因中还鉴定出其他6种序列变异，即c.IVS1+1G>A、c.167delT、c.235delC、p.W77X、p.R127H（多态性）、p.M163V。所有样本均未显示del（GJB6-D13S1830）或GJB6基因中的任何点突变。
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