Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.

Q3 Biochemistry, Genetics and Molecular Biology

Genetics Research International Pub Date : 2017-01-01 Epub Date: 2017-12-06 DOI:10.1155/2017/5836525

Hazem Kaheel, Andreas Breß, Mohamed A Hassan, Aftab Ali Shah, Mutaz Amin, Yousuf H Y Bakhit, Marlies Kniper

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引用次数: 6

Abstract

Background: Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI.

Methods: We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations.

Results: The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%).

Conclusion: The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

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叙利亚非综合征性听力障碍患者GJB2基因(连接蛋白26)c.35delG突变频率

背景:听力障碍(HI)是世界上最常见的出生缺陷。大量的基因已经被发现，但最深刻的是GJB2。由于该基因在不同种族群体中携带频率高(0.5-5.4%)，临床对该基因的兴趣非常明显。本研究旨在确定叙利亚重度感音神经性HI患者中常见GJB2突变的患病率。方法:对临床诊断为遗传性耳聋的132例叙利亚患者进行GJB2不同基因突变的PCR、限制性内切酶筛查和测序。结果:GJB2基因中以c.35delG居多(13.64%)，其次为c.457G>A(2.4%)。结论:本研究的好处一方面是首次报道了通过测序技术在叙利亚家庭中鉴定出的语前耳聋致病基因突变。从结果中可以明显看出，在生物医学研究中的部署是非常有效的，并且对揭示不同遗传疾病的遗传变异原因的能力有很大的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics Research International Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.90

自引率

0.00%

发文量

期刊介绍： Genetics Research International is a peer-reviewed, Open Access journal that publishes original research articles as well as review articles in all areas of genetics and genomics. The journal focuses on articles bearing on heredity, biochemistry, and molecular biology, as well as clinical findings.