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

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。

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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, TH01, 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.