Alonso S, Castro A, Fernandez I, Gómez de Cedrón M, Garcia-Orad A, Meyer E, Martínez de Pancorbo M
Dpto. de Biología Celular y CC. Morfológicas, Facultad de Medicina, Universidad del País Vasco, Bizkaia, Spain.
Int J Legal Med. 1995;107(5):239-45. doi: 10.1007/BF01245481.
The tetrameric STRs, HUMTH01, HUMVWA31A and HUMFES/FPS, were studied in a population from the Basque Country (northern Spain) for their frequency distribution and applicability to identity and paternity testing. All systems conformed to Hardy-Weinberg equilibrium; pairwise comparisons demonstrated the allelic independence between loci, and furthermore, all systems seemed to be in agreement with expectations from the Stepwise Mutation Model (SMM) of the mutation-drift theory, which indicates the homogeneity of the population and suggests a replication slippage mechanism as a possible model for generating alleles. A comparison with other population groups appeared to indicate that frequencies are well conserved in Caucasians, but differ from other racial groups. The calculated parameters "a priori probability of exclusion" (PEX) and "index of discrimination" (ID), show the informativeness of these loci for the determination of identity and relatedness of individuals.
对来自西班牙北部巴斯克地区人群的四聚体短串联重复序列（STRs）HUMTH01、HUMVWA31A和HUMFES/FPS进行了研究，以了解其频率分布以及在个体识别和亲子鉴定中的适用性。所有系统均符合哈迪-温伯格平衡；成对比较表明各基因座之间的等位基因独立性，此外，所有系统似乎都符合突变-漂变理论的逐步突变模型（SMM）的预期，这表明该人群具有同质性，并提示复制滑动机制可能是产生等位基因的一种模型。与其他人群组的比较似乎表明，这些频率在高加索人中保存良好，但与其他种族群体不同。计算得到的参数“排除的先验概率”（PEX）和“鉴别指数”（ID）显示了这些基因座在确定个体身份和亲属关系方面的信息性。
