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首页> 外文期刊>Genomics >Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene.
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Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene.

机译：USH1C基因内含子5中45 bp VNTR的结构，多样性和进化。

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摘要

Usher syndrome type IC is a rare, autosomal recessive sensorineural disorder caused by mutations in the USH1C gene, which encodes a PDZ-domain protein named harmonin. The Acadian-specific 216G-->A mutation in exon 3 and a variant 9-repeat VNTR allele (designated VNTR(t,t)) in intron 5 are in complete linkage disequilibrium. (The usual form of the allele is referred to as VNTR(t).) To gain insight into the structure, diversity, and evolution of the VNTR, we analyzed individuals from seven different populations, as well as nonhuman primates and rodents. The 2-, 3-, and 6-repeat VNTR alleles were the most common. Four novel alleles containing 1, 5, 7, and 10 repeats were detected with frequencies of 0.002, 0.029, 0.005, and 0.001, respectively. The USH1C VNTR region is highly conserved among primates, but not between primates and rodents. Five unrelated individuals had a 3-repeat VNTR(t,t) allele. Haplotype analysis indicates that the 9-repeat VNTR(t,t) and the 3-repeat VNTR(t,t) alleles arose independently. However, the 9-repeat VNTR(t,t) and 6-repeat VNTR(t) alleles shared the same haplotype, suggesting an expansion from 6(t) to 9(t,t).
机译：IC型Usher综合征是一种罕见的常染色体隐性感觉神经疾病，由USH1C基因的突变引起，该基因编码PDZ域蛋白，称为谐和蛋白。外显子5中的Acadian特异性216G→A突变和内含子5中的9重复VNTR等位基因变体（称为VNTR（t，t））处于完全连锁不平衡状态。 （等位基因的通常形式称为VNTR（t）。）为了深入了解VNTR的结构，多样性和进化，我们分析了来自七个不同种群的个体以及非人类的灵长类动物和啮齿动物。 2、3和6重复VNTR等位基因是最常见的。检测到四个包含1、5、7和10个重复的新等位基因，频率分别为0.002、0.029、0.005和0.001。 USH1C VNTR区在灵长类动物中高度保守，但在灵长类动物和啮齿动物之间却不那么保守。五个无关的个体具有3重复的VNTR（t，t）等位基因。单倍型分析表明9重复VNTR（t，t）和3重复VNTR（t，t）等位基因独立出现。但是，9重复VNTR（t，t）和6重复VNTR（t）等位基因共享相同的单倍型，表明从6（t）扩展到9（t，t）。

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