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Mutation Analysis of Familial GJB2-Related Deafness in Iranian Azeri Turkish Patients

机译:伊朗阿塞拜疆土耳其患者家族性GJB2相关性耳聋的突变分析

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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. G/B2 mutations were found in 28% of the patients. Among these patients 44 families had 35delG mutation. The following GJB2 variants, R184P, DelE120, V27I+E114G, W24×, DelE119, R127H, 235DelC, 290-291 insA, Y155×, A171T, E147×, 35insG, G158S, R32H, R143Q, T123N, R143W, H16R, V153I, 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:编码GJB2基因的连接蛋白26蛋白中的突变是全球常染色体隐性非综合征性听力损失的主要原因。在这项研究中,我们评估了GJB2和del(GJB6-D13S1830)突变对伊朗Azeri土耳其患者常染色体隐性非综合征性耳聋遗传负荷的贡献。结果:调查了来自209个不同核心家庭的先证者。在28%的患者中发现了G / B2突变。在这些患者中,有44个家庭具有35delG突变。以下GJB2变体R184P,DelE120,V27I + E114G,W24×,DelE119,R127H,235DelC,290-291 insA,Y155×,A171T,E147×,35insG,G158S,R32H,R143Q,T123N,R143W,H16R,V153I在418条染色体中的126条中鉴定了V27I,M163V和F154F(一种新变体)。在一名重度聋患者中,R143Q突变被确定为与35delG复合杂合。该患者的父母都是健康的,并且该患者的一个正常姐姐也是R143Q的携带者,表明该突变具有不完全的外显率。结论:我们的结果表明,在该族裔中,GJB2突变占常染色体隐性非综合征性听力损失的约28%。 35delG是最普遍的GJB2突变,占GJB2突变的64.5%。

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  • 来源
    《Genetic Testing》 |2009年第5期|689-692|共4页
  • 作者单位

    Faculty of Natural Sciences Center of Excellence for Biodiversity University of Tabriz University Ave. Tabriz 51638-68639 Iran Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran;

    Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran;

    Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran;

    Department of Otorhinolaryngology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
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  • 入库时间 2022-08-17 13:21:30

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