Pestoni C, Lareu M V, Rodríguez M S, Muñoz I, Barros F, Carracedo A
Institute of Legal Medicine, University of Santiago de Compostela, Spain.
Int J Legal Med. 1995;107(6):283-90. doi: 10.1007/BF01246874.
The 5 tetranucleotide short tandem repeats, HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS and HUMLPL were studied using different electrophoretic methods and PCR amplification conditions in order to optimize the typing conditions. A genetic population study in the population of Galicia was carried out and the allele and genotype frequencies are given. Compliance with the Hardy-Weinberg equilibrium was tested using different statistical parameters, with clear advantages resulting in favor of using the exact test (Guo-Thompson method) instead of conventional chi-square methods. Some statistical parameters of forensic interest (PD, CE, h) were also calculated. There were no mutations found in a total of 73 paternal meioses and 101 maternal meioses. Abnormal electrophoretic mobility was found in the AT-rich STR HUMF13A1 under non-denaturing conditions and, therefore, the use of denaturing conditions is absolutely necessary. No "stutter" bands were found, although double peaks in the HUMFES/FPS system were observed in some samples. The advantage of using automated sequencers with fluorescent technology is also reported.
为优化分型条件,采用不同电泳方法和聚合酶链反应(PCR)扩增条件对5个四核苷酸短串联重复序列(HUMTH01、HUMVWA31/A、HUMF13A1、HUMFES/FPS和HUMLPL)进行了研究。对加利西亚人群进行了遗传群体研究,并给出了等位基因和基因型频率。使用不同统计参数检验了哈迪-温伯格平衡的符合性,结果表明使用确切检验(郭-汤普森方法)比传统卡方方法具有明显优势。还计算了一些法医学相关的统计参数(个体识别力、非父排除率、杂合度)。在总共73次父系减数分裂和101次母系减数分裂中未发现突变。在非变性条件下,富含AT的短串联重复序列HUMF13A1出现了异常电泳迁移率,因此,使用变性条件是绝对条件是绝对必要的。未发现“拖带”条带,不过在一些样本中观察到HUMFES/FPS系统出现双峰。还报告了使用具有荧光技术的自动测序仪的优势。