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首页> 外文期刊>Journal of genetics >Single gene variants causing deafness in Asian Indians
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Single gene variants causing deafness in Asian Indians

机译：在亚洲印第安人造成耳聋的单一基因变体

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Congenital deafness is one of the common disorders, with some common genes accounting for most of the cases. One in 1000 children are born with sensorineural hearing loss, and of that 50% are hereditary. In the Mediterranean Europeans, 80% of the nonsyndromic recessive deafness is due to homozygous mutation in GJB2, the 35del G allele. InWestern population, the GJB2 variation have been found in up to 30–40% cases. In Indians, the GJB2 variants have been found in up to 20% cases, mostly from central and southern India. Inthe present study, DNA was extracted from blood using standard methods. This was used to perform targeted gene capture using a custom capture kit. Multiple genes causing deafness were sequenced by next-generation sequencing to mean[80–100x coverage on Illumina sequencing platform. We found variants in GJB2, WFS1, FGF3, EYA4, MYO7A and CHD7 genes. Most of these variants were pathogenic and novel, and possibly causative. Deafness is most commonly due to the autosomal dominant genes but in severe cases of early onset deafness, autosomal recessive genes may contribute in our population. In selected families of severe prelingual deafness, prenatal diagnosis can be done.
机译：先天性耳聋是常见疾病之一，具有一些常见的基因占大多数情况。 1000个孩子中的一个人出生在感觉内听力损失，其中50％是遗传性的。在地中海欧洲人中，80％的非正系隐性耳聋是由于GJB2中的纯合突变，35del G等位基因。 inpestern人口，GJB2变异已发现高达30-40％的情况。在印第安人，GJB2变体最多有20％的案例，主要来自印度中部和南部。目前研究，使用标准方法从血液中提取DNA。这用于使用自定义捕获试剂盒进行靶向基因捕获。通过下一代测序对引起耳聋的多个基因进行测序，以平均illumina测序平台上的80-100x覆盖率。我们发现GJB2，WFS1，FGF3，EyA4，MyO7A和CHD7基因的变体。这些变体中的大多数是致病性和新颖的，并且可能是致病性的。耳聋是最常见的，由于常染色体显性基因，但在严重的早期发作耳聋的情况下，常染色体隐性基因可能会在我们的人群中产生贡献。在选定的严重前期耳聋的家庭中，可以进行产前诊断。

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