Červenák Zdenko, Červenák Filip, Choma Andrej, Baldovič Marián, Masnicová Soňa
Comenius University, Clinical Research Unit, 5. Department of Internal Medicine, Comenius University Science Park, Bratislava, Slovakia.
Department of Genetics, Comenius University, Bratislava, Slovakia.
Ann Hum Biol. 2023 Feb;50(1):431-435. doi: 10.1080/03014460.2023.2264769. Epub 2023 Oct 9.
During the last 20 years, X-chromosomal STR markers have become widely used in forensic genetics and paternity testing. Nevertheless, to exploit their full potential in any given population, a reliable reference dataset needs to be established. Since no relevant studies concerning these markers have been performed on the Slovak population so far, we decided to analyse several commonly used markers in this population. To create an informative set of Slovak population data concerning X-STR markers. We genotyped 378 individuals and analysed 12 loci (DXS10148, DX10135, DXS8378, DXS7132, DXS10079, DXS10074, DXS10103, HPRTB, DXS10101, DXS10146, DXS10134 and DXS742) localised in four distinct linkage groups. Our analysis showed that the most informative marker is DXS10135 (PIC = 0,927) and the most informative linkage group (LG) is LG1 with 149 different haplotypes. This analysis also confirmed linkage disequilibrium for two pairs of markers (DX10101-DX10103 and DX10101-HPRTB) within LG3 in female samples. No statistically significant departure from HWE was observed for any locus. Moreover, the interpopulation comparison of 8 European populations based on haplotype frequencies showed no statistically significant F values in any LG, except for LG2 in comparison with the German population. We created a haplotype database for forensic analyses and kinship testing in Slovakia, as well as the CE dataset which can be used to further increase the decision power in similar analyses in the future.
在过去20年里，X染色体短串联重复序列（STR）标记已在法医遗传学和亲子鉴定中得到广泛应用。然而，要在任何特定人群中充分发挥其潜力，需要建立一个可靠的参考数据集。由于迄今为止尚未对斯洛伐克人群进行过关于这些标记的相关研究，我们决定分析该人群中几个常用的标记。为了创建一组关于X-STR标记的斯洛伐克人群信息数据。我们对378名个体进行了基因分型，并分析了位于四个不同连锁群中的12个基因座（DXS10148、DX10135、DXS8378、DXS7132、DXS10079、DXS10074、DXS10103、HPRTB、DXS10101、DXS10146、DXS10134和DXS742）。我们的分析表明，信息量最大的标记是DXS10135（多态信息含量PIC = 0.927），信息量最大的连锁群（LG）是LG1，有149种不同的单倍型。该分析还证实了女性样本中LG3内两对标记（DX10101 - DX10103和DX10101 - HPRTB）之间的连锁不平衡。未观察到任何基因座有统计学上显著偏离哈迪-温伯格平衡（HWE）的情况。此外，基于单倍型频率对8个欧洲人群进行的群体间比较显示，除了与德国人群相比的LG2外，任何连锁群中的F值均无统计学显著性。我们创建了一个用于斯洛伐克法医分析和亲属关系检测的单倍型数据库，以及可用于未来类似分析中进一步提高决策能力的CE数据集。
