Cabrero C, Díez A, Valverde E, Carracedo A, Alemany J
PharmaGen, Madrid, Spain.
Forensic Sci Int. 1995 Jan 30;71(2):153-64. doi: 10.1016/0379-0738(94)01661-n.
The allele frequency distributions of four VNTR loci amplified by PCR have been studied in a population of 205 individuals from Spain. The loci analysed are D1S80 and three STRs: HUMTH01, HUMFES/FPS and HUMACTBF2 (SE33). The former was visualized in Metaphor agarose gels, and the STRs in sequencing polyacrylamide gels under denaturing conditions which could separate alleles with differences of a single base. This is of particular importance in the HUMTH01 locus, a tetrameric STR in which two alleles (9.3 and 10) were detected differing in a single base. Furthermore, HUMACTBP2 has at least 30 alleles, some of which may vary by as little as one base. At this locus a variation in the allele mobility was observed, depending on the electrophoretic conditions. For this reason, there should be careful consideration before this marker is accepted and validated as a common interlaboratory system. This paper does not include any comparison of the frequencies obtained for this locus with other recent studies. For the rest of the loci, the frequencies found have been compared with other published population studies; they show a degree of difference, particularly in the D1S80 locus. Finally, the systems were tested for Hardy-Weinberg equilibrium, and some statistical parameters of forensic interest were calculated.
对西班牙205名个体群体中通过聚合酶链反应（PCR）扩增的四个可变数目串联重复序列（VNTR）位点的等位基因频率分布进行了研究。分析的位点是D1S80和三个短串联重复序列（STR）：人类甲状腺素结合球蛋白基因座（HUMTH01）、人类FES/FPS原癌基因座和人类ACTBP2基因座（SE33）。前者在Metaphor琼脂糖凝胶中可视化，而STR在变性条件下的测序聚丙烯酰胺凝胶中可视化，这种条件可以分离相差单个碱基的等位基因。这在HUMTH01基因座尤为重要，该基因座是一个四聚体STR，检测到两个等位基因（9.3和10）相差单个碱基。此外，HUMACTBP2至少有30个等位基因，其中一些等位基因的差异可能小至一个碱基。在这个基因座观察到等位基因迁移率的变化，这取决于电泳条件。因此，在将该标记物作为通用的实验室间系统接受和验证之前，应仔细考虑。本文未将该基因座获得的频率与其他近期研究进行任何比较。对于其他基因座，所发现的频率已与其他已发表的群体研究进行了比较；它们显示出一定程度的差异，特别是在D1S80基因座。最后，对这些系统进行了哈迪-温伯格平衡检验，并计算了一些具有法医意义的统计参数。
