用PCR法分析中国汉族群体D17S30位点遗传多态性  

POLYMORPHIC ANALYSIS OF THE D17S30 LOCUS IN A CHINESE HAN POPULATION BY THE POLYMERASE CHAIN REACTION

作　　者：陈林[1] 孙光云[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》1995年第2期85-88,共4页Chinese Journal of Medical Genetics

基　　金：卫生部资助

摘　　要：用聚合酶链式反应（ＰＣＲ）对中国汉族群体１２２名无关个体Ｄ１７Ｓ３０位点扩增片段长度多态性（Ａｍｐ－ＦＬＰ）进行分析研究，发现１０个等位基因，片段大小为１６８～７９８ｂｐ，基因频率为０．００８２～０．２５８２，杂合性为７８％。５５种可能基因型中发现了２７种，对基因型的观察值和期望值进行Ｘ２检验，符合Ｈａｒｄｙ－Ｗｅｉｂｅｒｇ平衡定律（Ｘ２＝１１．７６，ｄｆ＝８，０．１０＜Ｐ＜０．２５）。个人鉴别力（ＤＰ）为０．９３８４。对４个家系１４名相关个体的分析结果，证实Ｄ１７Ｓ３０位点是按孟德尔定律遗传的。对人体各种不同组织ＤＮＡ进行Ａｍｐ－ＦＬＰ分析，结果显示出高度的一致性。为提高扩增产物的特异性和灵敏度，对习惯用的ＰＣＲ进行了改良，采用ＨＳ－ＰＣＲ与２５μｌ微量反应体积进行扩增，减少了试剂消耗。本技术可检测微量及陈旧检材，适用于法科学中的亲子鉴定，个人识别和遗传性疾病的诊断。A genetic locus (D17S30) that contains a variable number of tandem repeat (VNTR) has been successfully amplified from a very small quantity of genomic deoxyribonucleic acid (DNA) by the polymerase chain reaction (PCR). PCR products were separated on agarose gel electrophoresis and visualized by ethidium bromide staining; the amplified-fragment-length polymorphism (AmpFLP) was shown. Analysis of 122 normal individuals of Han population revealed 10 alleles (differing in copy number of a 70 bp repeat unit) ranging from 168 to 798 bp in size. The allele frequencies were 0.0082 to 0. 2582;The heterozygosity of D17S30 locus was 78%, and the power of discrimination was 0.9384. Twenty seven different phenotyes were observed. The observed nurnber of genotypes were in good agreement with the expected number under the Hardy-Weinberg equilibrium (X2=11. 76,df=8,0.10<P<0.25). The Amp-FLP of different human tissues were consentient.The results showed that the Amp-FLP technique was a simple and rapid method for detecting D17S30 polymorphism.The D17S30 locus Amp-FLP can be used for paternity test,individual identification and genetic linkage study.

关 键 词：D17S30位点 汉族 聚合酶链反应 基因 多态性 

分 类 号：Q346.5[生物学—遗传学] Q987