Dumache Raluca, Puiu Maria, Mihailescu Alexandra, Enache Alexandra
Clin Lab. 2020 Aug 1;66(8). doi: 10.7754/Clin.Lab.2020.200103.
In forensic genetics, mutation analysis for different short tandem repeat (STR) loci is important for paternity and maternity testing. The aim of this study is determining the most frequent loci with mutations in a population of 743 individuals in western Romania in 246 kinship cases. These include 240 paternity and 6 maternity tests analyzed at the Laboratory of Forensic Genetics, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. The study was conducted between January 1, 2017, to January 1, 2020. The study aims to analyze the mutation rates for 15 autosomal markers used in this type of testing. The following loci were included in our study: D3S1358, D8S1179, D18S51, D21S11, FGA, TH01, vWA, CSF1PO, D7S820, D13S317, D16S539, D2S1338, D19S433, TPOX, D5S818.
For the reference samples, we used saliva collected on buccal swabs from all individuals. Salivary DNA was quantified on the 7500 real-time PCR equipment (Thermo Scientific, USA). Further, amplification of the DNA samples was performed on a ProFlex PCR System (Thermo Scientific, USA) using Identifiler Plus PCR Am-plification kit (Thermo Scientific, USA). Fragment analysis was performed on the 3500 Genetic Analyzer (Thermo Scientific, USA). The genetic profiles were generated by GeneMapper ID-X software version 1.4 (Thermo Scientific, USA).
The mutation events in paternity testing were observed in 10 out of the 15 analyzed loci: D21S11, D18S51, D16S539, D8S1179, FGA, D2S441, D19S433, D2S1338, D3S1358, D5S818 and vWA. Paternal mutations were more frequent (63%) than maternal mutations (37%).
The results confirm that the mutation rate in paternity tests are more frequent during paternal meiosis compared to maternal.
在法医遗传学中，对不同短串联重复序列（STR）位点的突变分析对于亲子鉴定至关重要。本研究的目的是确定罗马尼亚西部743名个体的246例亲属关系案例中最常发生突变的位点。这些案例包括在罗马尼亚蒂米什瓦拉维克托·巴比什医科大学法医遗传学实验室分析的240例亲子鉴定和6例母系鉴定。该研究于2017年1月1日至2020年1月1日进行。研究旨在分析此类检测中使用的15个常染色体标记的突变率。我们的研究纳入了以下位点：D3S1358、D8S1179、D18S51、D21S11、FGA、TH01、vWA、CSF1PO、D7S820、D13S317、D16S539、D2S1338、D19S433、TPOX、D5S818。
对于参考样本，我们使用从所有个体的口腔拭子上采集的唾液。唾液DNA在7500实时PCR设备（美国赛默飞世尔科技公司）上进行定量。此外，使用Identifiler Plus PCR扩增试剂盒（美国赛默飞世尔科技公司）在ProFlex PCR系统（美国赛默飞世尔科技公司）上对DNA样本进行扩增。片段分析在3500基因分析仪（美国赛默飞世尔科技公司）上进行。基因图谱由GeneMapper ID-X软件版本1.4（美国赛默飞世尔科技公司）生成。
在15个分析位点中的10个位点观察到亲子鉴定中的突变事件：D21S11、D18S51、D16S539、D8S1179、FGA、D2S44l（原文有误，推测为D2S1338）、D19S433、D2S1338、D3S1358、D5S818和vWA。父系突变（63%）比母系突变（37%）更常见。
结果证实，与母系减数分裂相比，亲子鉴定中的突变率在父系减数分裂期间更常见。
