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首页> 外文期刊>Genetic testing and molecular biomarkers >The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations
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The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

机译：的遗传基础Nonsyndromic听力损失印度和巴基斯坦人口

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摘要

Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.
机译：耳聋包含一系列的病因异构的障碍更多的突变超过400个独立的基因。研究表明,两者的大部分综合征和nonsyndromic形式的耳聋印度和巴基斯坦种族多样化种群是由缺陷引起的基因。对血缘婚姻文化的偏好和一个相关的患病率相对较高遗传疾病。大约是12亿年,据估计与先天性30000名婴儿出生感音神经性听力损失(HL)每年。估计深刻的双边HL率是1.6每1000人在巴基斯坦和70%的HL出现血缘家庭。耳聋的原因在一个独特的人口重要的遗传咨询和准确为及时干预和早期诊断治疗方案。现在用于听力的测试吗效率。提出的主要策略之一翻译基因和基因组的进步人口健康收益。耳聋的基因在印度和巴基斯坦人口的主要原因在这些国家,prospectives耳聋减少遗传性耳聋的发病率。

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