Červenák Zdenko, Červenák Filip, Baldovič Marian, Patlevičová Andrea, Masnicová Soňa
Faculty of Medicine, Comenius University, Clinical Research Unit, 5. Department of Internal Medicine, Comenius University Science Park, Bratislava, Slovak Republic.
Faculty of Natural Sciences, Comenius University, Department of Genetics, Bratislava, Slovak Republic.
Ann Hum Biol. 2022 Sep;49(5-6):248-253. doi: 10.1080/03014460.2022.2105397. Epub 2022 Aug 22.
Short tandem repeats (STRs) are genetic markers frequently used for human identification and paternity testing. They are highly mutable, which may occasionally lead to inconsistencies between the genotypes of parents and their children. As the mutation rates of individual STR markers can vary among populations, population-specific data are of high importance.
To investigate the mutation rates of 16 STR markers in the Slovak population.
In this study, we analysed the germline mutation rates of 16 STR markers (TH01, D3S1358, vWA, D21S11, D16S539, D1S1656, D19S433, SE33, D10S1248, D22S1045, D12S391, D8S1179, D2S1338, D2S441, D18S51 and FGA) in the Slovak population. At these loci, we analysed 42 096 allelic transfers and identified 61 mutation events.
The loci with the highest overall mutation rates were SE33 and FGA, while no mutations were identified in TH01, D19S433 and D22S1045. The average paternal mutation rate was higher than the maternal mutation rate. All but one mutation consisted of gains or losses of a single repeat unit and the overall mutation rate was estimated to be 1.45 x10 per meiosis.
This study provides data which can be used to further strengthen the correct paternity index calculations and reliability of paternity testing in Slovakia.
短串联重复序列（STRs）是常用于人类身份识别和亲子鉴定的遗传标记。它们具有高度变异性，这偶尔可能导致父母及其子女的基因型不一致。由于各个STR标记的突变率在不同人群中可能有所不同，因此特定人群的数据非常重要。
研究斯洛伐克人群中16个STR标记的突变率。
在本研究中，我们分析了斯洛伐克人群中16个STR标记（TH01、D3S1358、vWA、D21S11、D16S539、D1S1656、D19S433、SE33、D10S1248、D22S1045、D12S391、D8S1179、D2S1338、D2S441、D18S51和FGA）的生殖系突变率。在这些位点，我们分析了42096次等位基因传递，并鉴定出61个突变事件。
总体突变率最高的位点是SE33和FGA，而在TH01、D19S433和D22S1045中未发现突变。父系平均突变率高于母系突变率。除一个突变外，所有突变均由单个重复单元的增加或减少组成，总体突变率估计为每减数分裂1.45×10。
本研究提供的数据可用于进一步加强斯洛伐克亲子鉴定指数计算的正确性和亲子鉴定的可靠性。
