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STR位点D19S253和D8S1179的多态性研究 |
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黄代新 杨庆恩 梅昆
【摘要】 目的 研究STR位点D19S253和D8S1179的多态性，为法医学应用提供基础数据。 方法
应用PCR及PAG电泳技术对武汉地区200多名汉族无关个体进行了调查。 结果 两位点各检出9个等位基因，首次获得汉族人群频率分布。两位点基因型频率分布符合Hardy-Weinberg平衡。家系调查证实了等位基因的传递遵循孟德尔遗传规律，观察100次减数分裂未发现突变基因。D19S253和D8S1179位点的杂合度观察值分别为0.8089和0.8712，多态性信息含量分别为0.7754和0.8258。两位点联合PD值为0.9966，累积非父排除率为0.8791。 结论 表明这两个多态位点在法医学个人识别及亲子鉴定中是很有价值的遗传标记系统。
【关键词】 短串联重复序列 聚合酶链反应 D19S253 D8S1179 多态现象
GENETIC POLYMORPHISM OF STR LOCI D19S253 AND D8S1179 FOR HAN POPULATION IN WUHAN Huang Daixin*,Yang Qingen,Mei Kun. *Department of Forensic Biology,Faculty of Forensic Medicine,Tongji Medical University,Wuhan, 430030 P.R.China
【Abstract】 Objective This article reports a population genetic study on two short tandem repeat loci,D19S253 and D8S1179,in a sample of unrelated Chinese individuals (n=225-233) living in Wuhan.Methods PCR and PAGE. Results Nine alleles were identified for the two loci,the ranges of fragment size were 209bp-241bp and 174bp-206bp respectively.The genotypes distributions of D19S253 and D8S1179 were in accordance with Hardy-Weinberg equilibrium.Family studies confirmed Mendelian inheritance of alleles.No mutation was detected in 100 meiosis for the two STR loci studied.The observed heterozygosities of D19S253 and D8S1179 were 0.8089 and 0.8712.The polymorphism information content(PIC) in Chinese was calculated as 0.7754 for D19S253 and 0.8258 for D8S1179.The power of discrimination(PD) and mean exclusion chance(MEC) were 0.9309 and 0.6133 for D19S253 and 0.9515 and 0.6874 for D8S1179 respectively.The combined PD and cumulative chance of exclusion were calculated as 0.9966 and 0.8791. Conclusion The results demonstrate that the combined use of the two polymorphic systems provides a high power of discrimination and power of exclusion for use in forensic identification and paternity testing.
【Key words】 Short tandem repeat Polymerase chain reaction D19S253 D8S1179 Genetic polymorphism
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