河北汉族人群四个Y短串联重复序列基因座遗传多态性  

Polymorphic analysis of four Y short tandem repeat loci in Han nationality of Hebei province in China

作　　者：赵丽[1] 姚玉霞[1] 丛斌[1] 付丽红[1] 谷振勇[1] 李淑瑾[1] 左敏[1] 张国忠[1] 

机构地区：[1]河北医科大学法医学教研室,石家庄050017

出　　处：《中华医学遗传学杂志》2004年第6期636-639,共4页Chinese Journal of Medical Genetics

基　　金：河北省科学研究与发展计划(99276502D)~~

摘　　要：目的调查Y染色体特异基因座DYS438、DYS439、GATAA7.1、GATAA7.2的遗传多态性在河北汉族人群中的分布。方法应用聚合酶链反应及8%变性聚丙烯酰胺凝胶电泳分离扩增产物结合银染显带技术,对DYS438、DYS439、GATAA7.1、GATAA7.2基因座进行调查。结果DYS438、DYS439、GATAA7.1、GATAA7.2基因座分别检出4、5、5、4种等位基因,基因频率分布分别为0.0359～0.6587、0.0179～0.4107、0.0122～0.4146、0.0476～0.5238,个人识别率分别为0.5121、0.6811、0.6679和0.6327;上述4个基因座组成的单倍型在164名无关男性中共观察到70种,其中有36种仅出现一次,单倍型的个人识别机率达0.9480,家系调查符合单倍型父系遗传方式。结论DYS438、DYS439、GATAA7.1、GATAA7.2基因座个人识别机率高,属较高鉴别能力的遗传标记系统,且具有明显的人群分布差异,在法医学及人类遗传学研究中具有重要的应用价值。Objective To investigate the distribution of the polymorphism of the Y chromosomal loci DYS438, DYS439, GATA A7.1 and GATA A7.2 among Han population in Hebei province. Methods With the use of PCR followed by polyacrylamide gel electrophoresis and silver staining, the allele frequencies of these loci in 164 unrelated men of Han population were investigated. Results Four, five, five, four alleles were observed at the loci DYS438, DYS439, GATA A7.1 and GATA A7.2 respectively; the frequencies of these alleles ranged from 0.0359 to 0.6587, from 0.0179 to 0.4107, from 0.0122 to 0 4146 and from 0.0476 to 0.5238 respectively; the probability discrimination of these loci were 0.5121, 0.6811, 0.6679 and 0.6327 respectively. Seventy different haplotypes were found at these loci. Thirty six different haplotypes appeared only once. The power of discrimination of these four loci was 0.9480. Conclusion The results demonstrate that these loci (DYS438,DYS439,GATA A7.1 and GATA A7.2) are good genetic markers with high determination power and can be applied to individual identification, especially in paternity test and the detection of mixed samples.

关 键 词：基因座 汉族人群 遗传多态性 家系调查 单倍型 人群分布 检出 父系遗传 人类遗传学 显带技术 

分 类 号：R394[医药卫生—医学遗传学] Q987[医药卫生—基础医学]