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首页> 外文期刊>Biochemical Genetics >Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan
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Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan

机译：巴基斯坦哈扎拉分部GJB2突变对听力损失的贡献

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Mutations of GJB2, which encodes connexin 26, are the most common cause of hereditary hearing loss in many human populations. This study was initiated to determine the prevalence of GJB2 mutations in individuals with hearing loss from the Hazara Division in Pakistan. We recruited 70 participants with nonsyndromic deafness segregating as an apparently recessive trait and directly sequenced the GJB2 coding region from their DNA. The homozygous mutations c.71 G→A (p.W24X), c.104 T→G (p.I35S), and c.35delG (p.G12VfsX1) were identified as the cause of hearing loss in three participants (4.28%); in populations from other areas of Pakistan, frequencies of 6-7% have been observed. The mutations c.104 T→G and c.35delG were identified in Pakistan for the first time. These results confirm the low prevalence of GJB2 mutations in Hazara and suggest that mutations in other genes may play a significant role in the etiology of deafness in this population.
机译：编码连接蛋白26的GJB2突变是许多人群遗传性听力丧失的最常见原因。这项研究的目的是确定巴基斯坦哈扎拉分部有听力损失的个体中GJB2突变的患病率。我们招募了70名患有非综合征性耳聋的参与者，将其隔离为明显的隐性特征，并直接从其DNA测序GJB2编码区。纯合突变c.71 G→A（p.W24X），c.104 T→G（p.I35S）和c.35delG（p.G12VfsX1）被确定为三名参与者听力下降的原因（4.28％ ）;在巴基斯坦其他地区的人口中，频率为6-7％。巴基斯坦首次发现了突变c.104 T→G和c.35delG。这些结果证实了哈扎拉州GJB2突变的患病率较低，并表明其他基因的突变可能在该人群的耳聋病因中起重要作用。

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