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首页> 外文期刊>Human Genetics >The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
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The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

机译：黎巴嫩人口中的Usher综合征和USH2A候选地区的进一步完善。

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Usher syndrome (USH) is an autosomal-recessive disease characterized by neurosensory deafness and progressive retinitis pigmentosa. So far, three clinical types of Usher syndrome have been defined, and are caused by defects at more than eight loci. We report the linkage analysis of seven Lebanese families with Usher syndrome, two with type I (USH1) and five with type II (USH2). We demonstrate that one family is linked to the USH1C locus, a rare form of USH1 only reported in the French Acadian population. Linkage analysis of the five USH2 families with recently mapped loci allowed us to reduce the USH2A candidate region to a very small interval flanked by D1S2646/D1S2629 and D1S2827. Furthermore, haplotype comparison between the different families suggests a founder effect for the USH2A mutation among the different Lebanese ethnic groups, while a genetic heterogeneity is noted for Usher syndrome type I.
机译：Usher综合征（USH）是一种常染色体隐性遗传疾病，其特征是神经感觉性耳聋和进行性色素性视网膜炎。到目前为止，已经定义了三种临床类型的Usher综合征，它们是由八个以上位点的缺陷引起的。我们报告了7个黎巴嫩人Usher综合征，两个I型（USH1）和五个II型（USH2）家庭的联系分析。我们证明一个家庭与USH1C基因座相关联，USH1C基因座是仅在法国阿卡迪亚人口中报告过的USH1的罕见形式。对五个USH2家族与最近定位的基因座的连锁分析使我们能够将USH2A候选区域减少到一个很小的间隔，其侧翼为D1S2646 / D1S2629和D1S2827。此外，不同家族之间的单倍型比较表明，不同黎巴嫩族裔群体之间的USH2A突变具有更强的创始效应，而Isher综合征则具有遗传异质性。

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