Mouglabey Y B, Nimri S, Sayegh F, El Zir E, Slim R
Department of Biochemistry, American University of Beirut, Lebanon.
Clin Genet. 1998 Aug;54(2):155-8. doi: 10.1111/j.1399-0004.1998.tb03720.x.
Usher syndrome (US) is clinically and genetically a heterogeneous group of disorders characterized by the association of deafness with retinitis pigmentosa. So far, eight genes responsible for US have been mapped, of which only the gene responsible for the most common form, USH1B, has been identified. The USH1B is a large gene containing 49 exons and encoding for an unconventional myosin-VIIA (MYO7A). Mutation analysis within the MYO7A gene showed a wide variety of mutations dispersed all over the gene. The present report refines the location of the MYO7A gene relative to microsatellite markers mapped to this region, thereby allowing a reliable and efficient carrier detection by linkage analysis.
尤塞综合征（USH）在临床和遗传方面是一组异质性疾病，其特征为耳聋与色素性视网膜炎相关联。到目前为止，已定位了八个导致USH的基因，其中仅鉴定出了导致最常见形式USH1B的基因。USH1B是一个大基因，包含49个外显子，编码一种非常规肌球蛋白VIIA（MYO7A）。MYO7A基因内的突变分析显示该基因各处存在多种突变。本报告优化了MYO7A基因相对于定位于该区域的微卫星标记的位置，从而可通过连锁分析进行可靠且高效的携带者检测。
