6个miniSTR基因座荧光标记复合扩增的遗传多态性

Genetic Polymorphism of 6 MiniSTR Loci Using Fluorescence-labeled Multiplex-PCR Techniques

目的评价6个miniSTR基因座在DNA高度降解检材中的法医学应用价值,并调查广东汉族人群6个miniSTR基因座的遗传多态性。方法采用两个复合扩增PCR体系、四色荧光标记及毛细管电泳技术,对D1S1677,D2S441,D4S2364,D10S1248,D14S1434,D22S1045基因座进行基因型检测。结果6个miniSTR基因座均获得了清晰的基因型分型结果,扩增片段均小于120bp,分别检出7、7、5、8、8、7个等位基因和14、11、11、19、12、14种基因型,基因型分布均符合Hardy-Weinberg平衡。6个miniSTR基因座在广东汉族群体的个人识别率和非父排除率分别依次为0.863、0.895、0.792、0.894、0.814、0.904和0.392、0.360、0.353、0.568、0.378、0.513。10例IdentifilerTM试剂盒未能正确分型的高度降解DNA样本,采用6个miniSTR基因座复合扩增体系检测均提高了分型成功率结论6个miniSTR基因座荧光标记复合扩增体系在DNA高度降解检材的检测中具有较高的应用价值,并且在广东地区汉族群体中具有较好的遗传多态性。

Objective To evaluate the utility of 6 miniSTR loci （D1S1677, D2S441, D4S2364, D10S1248, D14S1434, and D22S1045） in highly degraded DNA samples, and to investigate the genetic polymorphism in Guangdong Han population. Methods The loci of 6 mini-STR in Han population of Guangdong were genotyped by primers labeled with four-color fluorescent （FAM, HEX, TAMRA and ROX） and two multiplex amplification reaction systems. Results Each locus was successfully genotyped with the product fragment less than 120bp. Among the 216 individuals investigated, 7, 7, 5, 8, 8, and 7 alleles, and 14, 11, 11, 19, 12, and 14 genotypes were detected at D1S1677, D2S441, D4S2364, D10S1248, D14S1434, and D22S1045, respectively. No deviation from Hardy-Weinberg equilibrium was observed in these loci. The discrimination power were 0.863, 0.895, 0.792, 0.894, 0.814, 0.904 and the excluding probability of paternity were 0.392, 0.360, 0.353, 0.568, 0.378, 0.513, respectively. The utility of the 6 miniSTR loci assays was confirmed by a higher successful rate for typing 10 highly degraded DNA samples, which were only partially being typed using Identifiler^TM kit. Conclusion The 6 miniSTR loci show genetic polymorphisms in the Han population of Guangdong. Assays for forensic typing the 6 miniSTR loci appear useful in highly degraded DNA samples.