用Amp－FLP技术研究中国汉族群体D4S95和DXS52位点的遗传多态性  

POLYMORPHIC ANALYSIS OF D4S95 AND DXS52 LOCI IN A CHINESE HAN POPULATION BY AMP-FLP TECHNIQUE

作　　者：孙光云[1] 景强[1] 吴梅筠[1] 

机构地区：[1]华西医科大学法医系血清学教研室

出　　处：《中华医学遗传学杂志》1996年第5期284-288,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金;纽约中华医学基金

摘　　要：为研究中国汉族群体Ｄ４Ｓ９５和ＤＸＳ５２位点的遗传多态性，应用改进的Ｄ４Ｓ９５和ＤＸＳ５２位点的扩增片段长度多态性（Ａｍｐ－ＦＬＰ）分析技术，检测了中国汉族个体共２２２名。结果分别为，（１）Ｄ４Ｓ９５位点：在１０８名无关个体中发现了７个等位基因（片段长度为９１０～１１５０ｂｐ），１８种基因型，杂合性为０．７６，个人鉴别力为０．８７１（２）ＤＸＳ５２位点：在１１４名无关个体中（男性７０人，女性４４人）发现了１４个等位基因（片段长度为６９５～２４００ｂｐ），在４４名女性个体中发现了２２种基因型，杂合性为０．７７．个人鉴别力为男性０．８９，女性０．９３１检测了两个家系两代３口之家的两位点的基因型，证明该两位点的基因按Ｍｅｎｄｅｌ定律遗传，该技术在法医科学鉴定中具有重要的应用价值。Fragment length polymorphism (FLP) analyses of D4S95 and DXS52 VNTR locis were carried out by Amp-FLP(amplified-fragment length ploymorphism) techniques.Among 108 unrelated individuals,7 alleles (size: 910～1150 bp: repeat unit: 39bp) and 18 different genotypes of D4S95 locus were observed. The heterozygosity was 0.76, and the discrimination power(Dp) was 0. 87. The distribution of observed genotypes was in good agreement with the Hardy-Weinberg equilibrium. In a sample of 114 unrelated Chinese individuals(70 males and 44 females). Fourteen alleles of DXS52 locus were observed, ranging in size of 695～2400bp. The repeat unit was about 60bp. The size of flanking sequence was about 650 bp. A system of nomenclature based On the number of repeat units is suggested. Alleles were designated as X1, X4, X5, X6, X9, X10 X11, X12, X13, X14, X15, X16, X18and X29. The commonest alleles were X1, X10, X11 and X12 (frequencies 0. 171, 0.120, 0. 221 and 0. 089, respectively). Twenty-two different genotypes were observed in 44 females with heterozygosity of 0.77. The discrimination powers were 0. 89 in male and 0. 93 in female, The family study demonstrated that these two loci were inherited according to Mendelian law.Since D4S95 and DXS52 loci have high discrimination power, and Amp-FLP technique is simple, rapid, sensitive, and accurate, they are useful for parentage testing and individual identification in forensic science practice.

关 键 词：D4S95 DXS52 位点 遗传多态性 汉族 

分 类 号：Q346.5[生物学—遗传学] R394.8[医药卫生—医学遗传学]