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首页> 外文期刊>Genetic testing and molecular biomarkers >Mutation Analysis of Familial GJB2-Related Deafness in Iranian Azeri Turkish Patients
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Mutation Analysis of Familial GJB2-Related Deafness in Iranian Azeri Turkish Patients

机译：家族GJB2-Related突变分析耳聋在伊朗阿塞拜疆土耳其病人

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摘要

Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the contributions made by GJB2 and del(GJB6- D13S1830) mutations to the autosomal recessive nonsyndromic deafness genetic load in Iranian Azeri Turkish patients. Results: Probands from 209 different nuclear families were investigated. GJB2 mutations were found in 28% of the patients. Among these patients 44 families had 35delG mutation. The following GJB2 variants, R184P, De1E120, V271+E114G, W24 x, De1E119, R127H, 235De1C, 290-291 insA, Y155 x, A171T, E147 x, 35insG, G158S, R32H, R143Q, T123N, R143W, H16R, V1531, V27I, M163V, and F154F (a new variant), were identified in 126 of the 418 chromosomes. R143Q mutation was identified as compound heterozygous with 35delG in one profoundly deaf patient. Both parents of this patient were healthy, and one normal sister of this patient was also a carrier for the R143Q, indicating that this mutation has incomplete penetrance. Conclusions: Our results show that GJB2 mutations are responsible for about 28% of the autosomal recessive nonsyndromic hearing loss in this ethnic group. 35delG is the most prevalent GJB2 mutation accounting for 64.5% of the GJB2 mutations.
机译：GJB2突变基因编码联接蛋白26蛋白质是常染色体的主要原因隐性nonsyndromic听力损失。这项研究中,我们评估了贡献常染色体隐性nonsyndromic耳聋基因负载在伊朗阿塞拜疆土耳其病人。从209年不同核心家庭渊源者调查。病人。有35 delg突变。R127H 235De1C、290-291靠Y155 x, A171T E147x, 35insG G158S、R32H R143Q T123N R143W,H16R, V1531、V27I、M163V、,and F154F(甲纽约变体),确定了126年的418染色体。与35 delg复合杂合的极度失聪的人耐心。病人是健康的,正常的妹妹这个病人R143Q也是一个载体,表明这种突变已经不完整外显率。GJB2突变是大约28%的负责常染色体隐性nonsyndromic听力损失在这个族群。普遍GJB2突变占64.5%GJB2突变。

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