Analysis of short tandem repeat mutations in paternity cases from Masovian Voivodeship provinces form years 2018-2022 based on materials of the Department of Forensic Medicine, Medical University of Warsaw

Krzysztof Żak, Magdalena Konarzewska
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Abstract

In paternity cases, genetic tests are of great importance as they allow to exclude or confirm paternity. As a result of paternity tests we can also obtain information on the frequency of short tandem repeat mutations, which are important in the statistical analysis of test results. A total of 468 cases of full paternity trios (mother, child and alleged father) were analysed from years 2018 - 2022 from the central part of Poland. For further analysis of the occurrence of the mutation 346 cases in which paternity was confirmed were qualified. DNA analysis was performed using the PowerPlex®Fusion 6C kit (Promega, USA). 36 mutations were observed in 13 of the 23 genetic markers analysed. 94.44% were one-step mutations and 5.56% were two-step mutations. Among those mutations, there were 18 insertions and 10 deletions, while in 8 cases it was not possible to determine whether an insertion or deletion occurred. There was also a significantly higher share of the father mutation in relation to the mother mutation at a ratio of 4.17:1.
根据华沙医科大学法医学系的材料,分析2018-2022年马索夫省亲子鉴定案例中的短串联重复突变
在亲子鉴定中,基因检测具有非常重要的意义,因为它可以排除或确认亲子关系。通过亲子鉴定,我们还可以获得有关短串联重复突变频率的信息,这对检验结果的统计分析非常重要。从 2018 年到 2022 年,我们分析了波兰中部地区共 468 例完全父子三人(母亲、孩子和声称的父亲)。为了进一步分析突变的发生情况,346 个亲子关系得到确认的病例被排除在外。DNA 分析使用 PowerPlex®Fusion 6C 试剂盒(美国 Promega 公司)进行。在分析的 23 个遗传标记中,有 13 个出现了 36 个突变。94.44%为一步突变,5.56%为两步突变。在这些突变中,有 18 个插入突变和 10 个缺失突变,有 8 个突变无法确定是插入还是缺失。父亲基因突变与母亲基因突变的比例也明显较高,为 4.17:1。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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