Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan

被引：0
作者：
Ihtisham Bukhari
Ghulam Mujtaba
Sadaf Naz
机构：
[1] University of the Punjab,School of Biological Sciences
[2] Hazara University,Department of Biochemistry
来源：
Biochemical Genetics | 2013年 / 51卷
关键词：
Connexin 26; Deafness; Hearing loss; Hazara; Pakistan;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：524 / 529
页数：5
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