四川汉族人群15个短串联重复序列基因座遗传多态性分析  

Genetic polymorphism of fifteen short tandem repeat loci in Sichuan Han population

作　　者：宋兴勃[1] 范红[1] 李永生[2] 周易[1] 张磊[1] 陆小军[1] 王军[1] 叶远馨[1] 应斌武[1] 

机构地区：[1]四川大学华西医院实验医学科,四川成都610041 [2]苏州市公安局吴中分局

出　　处：《中国输血杂志》2009年第12期977-982,共6页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金资助项目(编号:30900658)

摘　　要：目的获得15个短串联重复(short tandem repeat,STR)基因座在四川汉族人群中的群体遗传学数据。方法654份血样采自四川地区无血缘关系的汉族个体。Chelex法提取DNA,PCR复合扩增,自动基因分析仪电泳,收集电泳结果数据,基因扫描分析软件计算扩增产物片段相对大小,基因分型软件进行样本基因型分型。结果全部样本的每个STR基因座都获得了清晰的基因型分型结果。15个STR基因座的基因型分布符合Hardy-Weinberg平衡。15个STR基因座的杂合度介于0.6101—0.8654之间。累计非父排除率和累计个人识别率为0.999998766和>0.999999999。结论经1次扩增电泳可获得15个STR基因座的基因型分型结果,累计非父排除率和累计个人识别率较高,适合作为四川汉族人群的遗传标记,用于人类学、疾病连锁分析、法医学亲权鉴定和个体识别等领域的研究。Objective To acquire the population genetic data of fifteen short tandem repeat （STR） loci in Sichuan Chinese Han population. Methods A total of 654 blood specimens were collected from the unrelated individuals in Sichuan Han population. DNA was extracted with Chelex method and amplified by multiplex PCR technique. The PCR products were analyzed by an automatic genetic analyzer; the relative fragment lengths of PCR products were calculated by genescan analysis software and afterward genotyped by genotype software. Results.. Fifteen STR loci of each sample showed a successful result of genotyping. The gene frequency of these 15 STR loci was in Hardy-Weinberg equilibrium. The heterozygosities of the fifteen STR loci in Sichuan Han population were found to be 0. 610 1-0. 865 4; the combined exclusion probability and discrimination power for the 15 STR loci in Sichuan Han population were determined to be 0. 999 998 766 and above 0. 999 999 999,respectively. Conclusion The distinct genotype of 15 STR loci could be unveiled just through PCR and electrophoresis once, and a higher measured value could be obtained for both the combined discrimination power and the combined exclusion probability ; the fifteen STR loci can be used as genetic markers of Sichuan Chinese Han population in anthropological studies, linkage analysis of genetic diseases, parentage testing and personal identification in forensic medicine.

关 键 词：短串联重复 复合扩增 基因分型 基因频率 遗传多态性 

分 类 号：R394[医药卫生—医学遗传学] R457.11[医药卫生—基础医学]