Forensische Genetik, Röntgenstrasse 23, 48149, Münster, Germany.
Int J Legal Med. 2010 May;124(3):177-82. doi: 10.1007/s00414-009-0377-0. Epub 2009 Nov 11.
In this study, 98 families with 101 mutations were analyzed in depth in which a mutation had been observed at one of the four loci D3S1358, FGA, ACTBP2, and VWA. To determine the origin (male/female) of the mutation, five to seven polymorphic flanking markers were selected for each locus concerned and used to construct family-specific haplotypes. Additionally, all alleles of the STR system concerned were sequenced. With this duplicate approach, it was possible to identify the mutated structure and/or mutation event in the vast majority of cases. The ratio of one-step to two-step mutations was 100:1. The ratio of paternal to maternal mutations was 76:8. The ratio of gains to losses was 47:50. Also, the mutation rates in two systems, ACTBP2 and VWA, were clearly higher than those given in the literature.
在这项研究中，对 98 个家系的 101 个突变进行了深入分析，这些家系中的一个突变发生在四个位点 D3S1358、FGA、ACTBP2 和 VWA 之一。为了确定突变的来源（父本/母本），每个相关位点选择了五到七个多态侧翼标记，用于构建家系特异性单倍型。此外，还对所涉及的 STR 系统的所有等位基因进行了测序。通过这种重复的方法，绝大多数情况下都可以识别突变的结构和/或突变事件。一步突变和两步突变的比例为 100:1。父源突变和母源突变的比例为 76:8。获得的突变和丢失的突变的比例为 47:50。此外，ACTBP2 和 VWA 两个系统的突变率明显高于文献中的报道。
