成都汉族ACTBP2位点多态性研究及三个位点的复合扩增

目的：获得中国成都地区汉族人群中短串联重复序列ACTBP2（SE33）位点的多态性分布，建立DHFRP2、FIBRA和ACTBP2三个STR位点的复合扩增方法。方法：用Amp-FLP、聚丙烯酰胺凝胶电泳、银染技术，对147个成都汉族无血缘关系个体进行分析。结果：发现ACTBP2位点的等位基因为20个；基因型86种；观察杂合度（h)0.9728;个体鉴别机率（DP）0．986；多态性信息量（PIC）0．9310；非父排除率（EP）0．8203。基因型分布皆符合Hardy-Weinberg平衡，家系调查结果证明符合孟德尔遗传法则。结论：ACTBP2位点多态性好，灵敏度高，可用于人类遗传分析及法科学中的亲子鉴定和个人识别，三个STR位点的复合扩增方法简便，结果可靠。

Analysis of Polymorphism of ACTBP2 Locus in Han Population in Chengdu and Triplexing of Three STR Loci

Objective To obtain the polymorphism of ACTBP 2 locus in Han Chinese in Chengdu and establish the triplexing of three STR loci (DHFRP 2,FIBRA and ACTBP 2). Mothods Amp FLP, PAGE and silver stain were used to analyze 147 individuals. Results Twenty alleles and 86 genotypes were observed in ACTBP 2. The discriminating power(DP),observed heterozygosity(h),polymorphism information content(PIC) and chance of paternity exclusion power(EP) were 0.9861, 0.9728, 0.9310 and 0.8203, respectively. The distributions of the genotypes were in good agreement with Hardy Weinberg equilibrium. Studies of the families revealed that the locus was in accord with the Mendelian law. Conclusion These data indicate that ACTBP 2 is of good polymorphism and can be applied to human genetic study,forensic parentage testing and identification.