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  

APPLICATION OF DYS ⅠDYS Ⅱ,DYS Ⅲ IN LINKAGE AND ALLELE FREQUENCY ANALYSIS OF BMD/DMD GENE

作　　者：郦云[1] 俞萍 蒋汝成[2] 张继秀[1] 陈小青[1] 

机构地区：[1]浙江医科大学生物学教研室 [2]浙江省普陀市虾峙区中心医院

出　　处：《浙江医科大学学报》1997年第4期145-148,157,共5页

基　　金：浙江省自然科学基金

摘　　要：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。PCR technique was applied to amplification of three polymorphic short tandem repeats(DYS Ⅰ,DYS Ⅱ, DYS Ⅲ )of DMD gene. The PCR products were electrophoresed on polyacrylamide gel. The results showed that the loci were highly polymorphic,with heterozygosities of 76. 7%,86. 7% and 43. 3% in southeast China. Polymorphism Information Contents(PIC) ranged from 0. 659 to 0. 697. In a large DMD family haplotype linkage analysis demons-traied that there were no recombination in 10 informative meiosis analysed between the three loci and dystrophin gene. In addition,though the loci were highly polymorphic,in some cases the polymorphic loci were homozygotic and could not provide any information for linkage analysis. It indicated that in a linkage locus.several polymorphic markers should be used,so that more accuracy information would be provided.

关 键 词：肌营养不良症 遗传学 微卫星多态 

分 类 号：R746.203[医药卫生—神经病学与精神病学]