中国甘肃青海5个民族群体STR基因座遗传多态性及其应用研究  

Genetic polymorphisms and application of 9 STR loci of 5 ethnic groups in Gansu and Qinghai

作　　者：陈腾[1] 金天博[1] 辛娜[1] 赖江华[1] 李生斌[1] 

机构地区：[1]西安交通大学医学院法医系

出　　处：《中南大学学报（医学版）》2006年第6期877-882,共6页Journal of Central South University ：Medical Science

基　　金：国家自然科学基金(39970401);陕西省科技攻关项目(2004K09-G12)

摘　　要：目的：研究中国甘肃青海地区5个少数民族群体（土族、撒拉族、东乡族、保安族、裕固族）STR基因座的遗传多态性及其应用。方法：选择9个STR基因座（D3S1358，VIVA，FGA，TH01，TPOX，CSF1PO，D5S818，D13S317，D7S820），采用STR复合扩增及荧光标记STR基因扫描技术，用ABI377全自动测序仪进行基因分型，同时检测5个少数民族群体的606个健康无关个体血液样本，计算5个少数民族群体的多态信息量、杂合度、个体识别力以及非父排除率等遗传多态性指标。结果：9个STR位点的基因型在5个少数民族群体中的分布均符合Hardy-Weinberg平衡定律。5个少数民族群体9个STR位点的多态信息量范围在0．6054～0．8735之间；杂合度在0．6158～0．8736之间；个体识别力在0．7964～0．9691之间；非父排除率在0．4610～0．8838之间。采用基于基因频率的聚类分析发现，甘肃青海地区的土族、撒拉族、保安族及东乡族在起源上较为接近，而裕固族则相对较远；5个民族群体与中国南北方民族各群体之间有明显的基因交流现象。结论：在5个少数民族群体中，9个STR位点均为高度多态性遗传性标记，可用于群体遗传学、法医学等领域的研究，具有较高的应用价值。Objective To examine the genetic polymorphism of 9 STR loci in 5 ethnic groups （including Tu, Sala, Dongxiang, Baoan and Yugu） in Gansu and Qinghai, and to evaluate its application. Methods Nine STR loci （ D3S1358, FGA, THO1, D7S820, VWA, CSF1PO, D5S818, D13S317 and TPOX） were selected as genetic markers. With STR compound amplification and genescan methods, in which STR loci were marked by fluorescence, the genotype of 5 ethnic groups were examined in 606 unrelated individuals by ABI 377 sequencer. These parameters, such as polymorphism information content （ PIC ） , heterozygosity （ H ） , discrimination power （ DP ） and probability of paternity exclusion （PPE） were calculated. Results The genotype frequencies of the 9 STR loci were in accordance with Hardy-Weinberg equilibrium. PIC was within 0. 6054 - 0. 8735, H was within 0. 6158 - 0. 8736, DP was within 0. 7964 - 0. 9691 , and PPE was within 0. 4610 - 0. 8838. Cluster analysis based on allele frequencies in genesis showed Tu, Sala, Dongxiang and Baoan ethnic groups were very close, but Yugu was a little bit far. There were obvious gene exchanges among the populations in north and south of China. Conclusion All the 9 STR loci are highly polymorphic in the 5 ethnic groups, which can be useful genetic markers in forensic medicine and population genetics.

关 键 词：群体遗传学 短串联重复序列 遗传多态性 聚类分析 

分 类 号：R394[医药卫生—医学遗传学]