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首页> 外文期刊>Journal of genetics >GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals
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GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals

机译：GJB2和线粒体A1555G基因突变在健康个体的非综合征性深度听力损失和载波频率中

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This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. Ninety-five patients with profound hearing loss (90 dB) and 67 healthy controls were included. All patients had genetic nonsyndromic hearing loss. Molecular analyses were performed for connexin 26 (35delG, M34T, L90P, R184P, delE120, 167delT, 235delC and IVS1+1 A a?’ G) mutations, and for mitochondrial A1555G mutation. Twenty-two connexin 26 mutations were found in 14.7% of the patients, which were 35delG, R184P, del120E and IVS1+1 A a?’ G. Mitochondrial A1555G mutation was not encountered. The most common GJB2 gene mutation was 35delG, which was followed by del120E, IVS1+1 A a?’ G and R184P, and 14.3% of the patients segregated with DFNB1. In consanguineous marriages, the most common mutation was 35delG. The carrier frequency for 35delG mutation was 1.4% in the controls. 35delG and del120E populations, seems the most common connexin 26 mutations that cause genetic nonsyndromic hearing loss in this country. Nonsyndromic hearing loss mostly shows DFNB1 form of segregation.
机译：这项研究旨在评估患有严重遗传性非综合征性听力损失的患者和健康对照者的GJB2基因突变（连接蛋白26）以及A1555G线粒体突变。包括九十五名患有严重听力损失（> 90 dB）的患者和67名健康对照。所有患者均患有遗传性非综合征性听力损失。对连接蛋白26（35delG，M34T，L90P，R184P，delE120、167delT，235delC和IVS1 + 1 A a'’G）突变和线粒体A1555G突变进行了分子分析。在14.7％的患者中发现了22个连接蛋白26突变，分别是35delG，R184P，del120E和IVS1 + 1 A a'’G。线粒体A1555G突变并未出现。最常见的GJB2基因突变是35delG，其次是del120E，IVS1 + 1 A a？’G和R184P，并且14.3％的患者患有DFNB1。在近亲婚姻中，最常见的突变是35delG。对照中35delG突变的载频为1.4％。 35delG和del120E人群似乎是导致该国遗传性非综合征性听力损失的最常见连接蛋白26突变。非综合征性听力损失大多显示DFNB1形式的分离。

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