广东汉族人群8个短串联重复序列基因座的遗传多态性研究

目的:对广东汉族人群8个(D2S1360、D3S1545、D7S1517、D16S3253、D18S1270、D19S253、D20S470、D21S1437)短串联重复序列(STR)基因座的等位基因频率进行研究并获得群体遗传参数,探讨其法医学应用价值。方法:对216份广东汉族无关个体EDTA抗凝血样用Chexlex-100法提取DNA,应用多重聚合酶链反应结合聚丙烯酰胺凝胶电泳对以上8个基因座在广东汉族人群中的基因型分布进行分析。结果:此8个基因座分别检出12、9、13、9、10、10、13、10个等位基因和42、27、45、33、31、36、44、31种基因型,且基因型频率分布符合Hardy-Weinberg平衡定律。各基因座的观察杂合度分别为0.851、0.782、0.885、0.756、0.784、0.812、0.917、0.725。8个基因座的累积个体识别机率为0.999 999 7,累计非父排除概率为0.998 15。40个家系样品调查证实上述基因座均遵循孟德尔遗传规律,未观察到突变。结论:8个STR基因座在广东汉族人群中具有较高的遗传多态性,在法医学应用和群体遗传学研究中具有应用价值。

Genetic Polymorphisms of Eight Short Tandem Repeats Loci in the Han Population of Guangdong Province

Objective: To investigate the allele frequencies of 8(D2S1360,D3S1545,D7S1517,D16S3253,D18S1270,D19S253,D20S470,and D21S1437)short tandem repeats(STR)loci in the Han population of Guangdong province,and to evaluate its availability in forensic science.Methods: DNA was extracted with Chexlex-100 from 216 EDTA-blood specimens of healthy unrelated individuals in Guangdong Han population.The multiplex PCR and PAGE vertical electrophoresis were used to screen the genotype frequencies of 8 STR loci.Results: 12,9,13,9,10,10,13,10 alleles and 42,27,45,33,31,36,44,31 genotypes were observed in 8 STR loci respectively.The observed heterozygosities of 8 loci were 0.851,0.782,0.885,0.756,0.784,0.812,0.917,and 0.725,respectively.The calculated discrimination power was 0.9999 997,the caculated power of exclusion is 0.99 815.The parentage testing of 40 cases revealed an autosomal codominant inheritances and no mutations were detected to 8 STR loci.Conclusion: All of the 8 STR loci in this study have high power of discrimination and exclusion,they may be available as the candidate genetic markers for forensic application and population genetics purposes.