中国人D13S26位点的多态性及其在Wilson's病家系中的连锁分析  

Polymorphisms of the D13S26 Locus in Chinese and Its Aplication to Linkage Analysis of Wilson Disease

作　　者：方炳良[1] 王玫[1] 黄尚志[1] 李佳[1] 高秀贤[2] 汤晓芙[2] 罗会元[1] 

机构地区：[1]中国医学科学院基础医学研究所 [2]中国医学科学院北京协和医院

出　　处：《中国医学科学院学报》1992年第3期206-209,共4页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金;美国CMB基金

摘　　要：D13S26位点位于13q21.1～q21.2,与Wilson病基因位点相距约3.8分摩(centimor-gan,cm).中国人D13S26位点的多态等位片段与白种人相同,但各等位片段的频率两者差异明显,中国人HphI酶切点的多态信息最高,杂合率约0.5。应用D13S26位点对3个Wilson病家系进行连锁分析,证实D13S26/HphI可用于Wilson病的症状前诊断。The D13S26 locus has been mapped to 13q21 .1-q21.2 and is linked with Wilson disease gene at a distance of 3.8 centimorgans. The polymorphic alleles detected by HphI, EcoRI and Bell at the D13S26 locus are the same in Chinese as in Caucasians, but the allele frequencies are quite different. As calculated from 30 unrelated Chinese individuals, the allele frequencies were as follows: HphI 2.8 kb(0.47)/2.0kb(0.53): EcoRI 9.0 kb (0.02)/8.0 kb (0.98); BclI 6.3 kb (0.02)/5.6 kb (0.98). Cosegregation analysis of the D13S26 locus and Wilson disease locus was carried out in 3 families with the disease. In one of these families, the proband and his younger sister (7-years-old and phenotypi-cally normal) were both heterozygous for this site. We predict with 85.6% confidence that the younger sister is in the presymptomatic stage of Wilson disease.

关 键 词：肝豆状核变性 DNA 多态性现象 

分 类 号：R575.240.4[医药卫生—消化系统]