以DYSⅠ和DYSⅡ及DYSⅢ对进行性肌营养不良症家系作连锁分析及群体中基因频率分析

来源 :浙江医科大学学报 | 被引量 : 0次 | 上传用户:jinlu2010
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作者用聚合酶链式反应扩增DMD基因转录起始区5’的3个微卫星多态(DYSⅠ、DYSⅡ、DYSⅢ),并用聚丙烯酸胺凝胶电泳及溴乙锭染色观察其扩增产物。可见,在东南沿海地区中国人中,这3个多态均具有高度的多态性,杂合子频率分别为76.7%、86.7%和43.3%。多态信息含量(PIC)分别为0.659、0.687和0.697。在一个DMD大家系中的单倍型连锁分析结果显示,这3个多态与DMD基因之间,在10个可供分析的减数分裂中未见重组体的出现;同时表明,尽管这些多态具有高度的多态性,但在具体操作中可能会时常碰到由于多态位点的纯合而不能提供信息的情况,提示在一个连锁位点应同时使用几个多态标记,以提供准确的信息。本研究为用DYSⅠ、DYSⅡ、DYSⅢ检出DMD/BMD携带者及进行产前诊断做出估价。 The authors used polymerase chain reaction to amplify three microsatellite polymorphisms (DYS I, DYS II, DYS III) 5 ’of the DMD gene transcription start region and their amplification products were observed by polyacrylamide gel electrophoresis and ethidium bromide staining. It can be seen that among the Chinese in the southeastern coastal areas, all three polymorphisms have a high degree of polymorphism with heterozygote frequencies of 76.7%, 86.7% and 43.3%, respectively. Polymorphic information content (PIC) were 0.659,0.687 and 0.697, respectively. Haplotype linkage analysis in a pedigree of the DMD family showed no recombinants in 10 meioses available for analysis between these 3 polymorphisms and the DMD genes; State has a high degree of polymorphism, but in practice may often encounter due to the homozygosity of polymorphic sites can not provide information on the situation, suggesting that a chain of sites should also use several polymorphic markers to provide accurate information. In this study, DYS I, DYS II, DYS III detection of DMD / BMD carriers and prenatal diagnosis to make a valuation.
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