Turowska B, Sanak M
Institute of Forensic Medicine, Faculty of Medicine, Jagiellonian University, Krakow, Poland.
Forensic Sci Int. 1995 Oct 30;75(2-3):207-16. doi: 10.1016/0379-0738(95)01790-9.
A highly variable number of tandem repeats (VNTRs) in a human locus D1S80 can prove to be useful for forensic science purposes. As with other genetic polymorphisms, a database of a local population allelic frequencies is needed to ensure that no departure from genetic equilibrium exists. DNA from the locus D1S80 was amplified by polymerase chain reaction (PCR) and analyzed by horizontal PAGE followed by silver staining. Samples from 133 unrelated inhabitants of Southern Poland were examined. The amplified fragment length polymorphism (AMP-FLP) analysis of the D1S80 locus demonstrated 21 alleles and heterozygosity of 0.85%. Out of the 231 possible genotypes, 47 were observed. The results were compared to the published D1S80 population studies and a meta-analysis of the genotype frequencies was performed. The G statistics revealed a deviation from genetic equilibrium in the Spanish population. Replicated goodness of fit tests showed highly significant heterogeneity of genotype distribution between tested populations. Therefore, interpretation of the casework on the basis of D1S80 locus typing may be biased by interpopulation differences.
人类基因座D1S80中高度可变的串联重复序列（VNTRs）经证实可用于法医学目的。与其他基因多态性一样，需要一个当地人群等位基因频率数据库，以确保不存在偏离遗传平衡的情况。通过聚合酶链反应（PCR）扩增来自基因座D1S80的DNA，并通过水平聚丙烯酰胺凝胶电泳（PAGE）和银染进行分析。对来自波兰南部133名无亲缘关系居民的样本进行了检测。对D1S80基因座的扩增片段长度多态性（AMP-FLP）分析显示有21个等位基因，杂合度为0.85%。在231种可能的基因型中，观察到了47种。将结果与已发表的D1S80人群研究进行比较，并对基因型频率进行了荟萃分析。G统计显示西班牙人群存在遗传平衡偏差。重复的拟合优度检验表明，受试人群之间基因型分布存在高度显著的异质性。因此，基于D1S80基因座分型的案件工作解释可能会因人群间差异而产生偏差。
