Pagotto R C, Canas M C, Brito R O, Simões A L
Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes 3900, 14049-900 Ribeirão Preto, SP-Brazil.
Int J Legal Med. 1999;112(5):326-8. doi: 10.1007/s004140050261.
Allele frequencies were calculated for three tetrameric short tandem repeats (STRs) located in intron 40 of the human von Willebrand factor (vWA, vWF1 and vWF2) in 352 white individuals sampled from an urban population from the northeastern region of the State of São Paulo, Brazil. The exact test did not indicate any significant deviation from HWE for any of the three investigated loci. The allele frequencies of vWA and vWF1 showed unimodal and bimodal distributions, respectively, and the frequencies of vWF2 in our sample exhibited bimodal or even trimodal patterns. These differing patterns could reflect the differential action of one selective factor or of the distribution of mutations in these STRs, although the STRs are very close to one another and belong to the same gene. The frequency of paternity exclusions observed for each of these three loci conform to the theorectical expectations. The lack of difficulties regarding the methodology of typing and the forensic value of statistical parameters confirm the usefulness of these systems to study Brazilian populations.
在从巴西圣保罗州东北部城市人口中抽取的352名白人个体中,计算了位于人类血管性血友病因子第40内含子中的三个四聚体短串联重复序列(STRs,即vWA、vWF1和vWF2)的等位基因频率。确切检验表明,所研究的三个位点中的任何一个均未显示出与哈迪-温伯格平衡(HWE)有任何显著偏差。vWA和vWF1的等位基因频率分别呈现单峰和双峰分布,并且我们样本中vWF2的频率呈现双峰甚至三峰模式。尽管这些STRs彼此非常接近且属于同一基因,但这些不同模式可能反映了一个选择因子的差异作用或这些STRs中突变的分布情况。观察到的这三个位点中每个位点的父权排除频率均符合理论预期。在分型方法上没有困难以及统计参数的法医学价值证实了这些系统对于研究巴西人群的有用性。