Suppr超能文献

[关于在莫斯科人群中发现人类X染色体位点DXS52多态性等位基因频率的评估]

[Assessment of the frequency of finding polymorphic alleles of the human X-chromosome locus DXS52 in the Muscovite population].

作者信息

Kaĭdalova A I, Smirnova O V, Surin V L, Solov'ev G Ia

出版信息

Genetika. 1994 Jul;30(7):966-8.

PMID:7958812
Abstract

The frequency of different polymorphic variants of the multiallelic locus DXS52 (St14) of the human X-chromosome, adjacent to the factor VIII gene, was evaluated by means of PCR for the heterogeneous population of Moscow and Moscow oblast'. It was shown that the heterozygosity index of this polymorphism in the studied population is much lower (0.71) than in Western Europe (0.80-0.85), which can apparently be explained by a higher frequency of the prevailing allele 1690 (0.52 compared to 0.36). Five new St14 alleles were detected during this study. The total informativity of the polymorphic markers St14 and HindIII (intron 19 of the factor VIII gene), which are most commonly used for hemophilia A detection, was evaluated. Among 83 investigated women, only 57 (69%) were heterozygous for at least one of the markers used, which is also much lower than in Western-European populations (90-95%).

摘要

利用聚合酶链反应(PCR)对莫斯科市及莫斯科州的异质人群,评估了人类X染色体上与凝血因子VIII基因相邻的多等位基因座DXS52(St14)不同多态性变体的频率。结果显示,该多态性在研究人群中的杂合度指数(0.71)远低于西欧人群(0.80 - 0.85),这显然可归因于优势等位基因1690的频率较高(0.52,而西欧为0.36)。本研究期间检测到五个新的St14等位基因。评估了最常用于检测A型血友病的多态性标记St14和HindIII(凝血因子VIII基因内含子19)的总信息量。在83名受调查女性中,只有57名(69%)至少对一种所使用的标记呈杂合状态,这也远低于西欧人群(90 - 95%)。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验