Ehler Edvard, Marvan Richard, Vanek Daniel
Charles University in Prague, Faculty of Science, Department of Anthropology and Human Genetics, Vinicna 7, 12844 Praha 2, Czech Republic.
Croat Med J. 2010 Feb;51(1):54-60. doi: 10.3325/cmj.2010.51.54.
To evaluate the novel triplex polymerase chain reaction (PCR) assay for the analysis of polymorphic Y-chromosomal short tandem repeat loci (Y-STR).
A total of 14 Y-STR loci was analyzed. Allele frequencies for 3 tetrameric Y-STR loci (DYS449, DYS456, and DYS458) and extended haplotype loci typed by Y-PLEXTM 12 system were investigated in a sample of 50 unrelated healthy Czech male donors. We computed the relevant intra-population statistic parameters for our data (gene diversity, average gene diversity over loci, and mean number of pairwise differences) and compared our sample set with other Central European populations using RST pairwise genetic distance.
We focused on the comparison of genetic diversity between the Y-STR extended haplotype loci and that of the 3 additional loci, and on the benefit of using DYS449, DYS456, and DYS458 in forensic and population genetics applications. Total gene diversity in our sample set was 0.998367 when using all 14 loci. Our data analysis revealed very high genetic diversity at DYS449 locus (0.876735), which surpasses even the diversity at DYS385a/b (0.819592). Population comparison showed no difference between Czech, Bavarian, Austrian, and Saxon sample set. A minor difference was found between Czech and Polish sample set.
Typing of 3 Y-chromosomal microsatellite polymorphisms may provide a useful complement to already established sets of Y-STRs.
评估用于分析多态性Y染色体短串联重复序列位点（Y-STR）的新型三重聚合酶链反应（PCR）检测方法。
共分析了14个Y-STR位点。在50名无亲缘关系的健康捷克男性供体样本中，研究了3个四聚体Y-STR位点（DYS449、DYS456和DYS458）的等位基因频率以及通过Y-PLEXTM 12系统分型的扩展单倍型位点。我们计算了数据的相关群体内统计参数（基因多样性、位点平均基因多样性和成对差异平均数），并使用RST成对遗传距离将我们的样本集与其他中欧人群进行比较。
我们重点比较了Y-STR扩展单倍型位点与另外3个位点之间的遗传多样性，以及在法医和群体遗传学应用中使用DYS449、DYS456和DYS458的益处。使用所有14个位点时，我们样本集的总基因多样性为0.998367。我们的数据分析显示，DYS449位点的遗传多样性非常高（0.876735），甚至超过了DYS385a/b位点的多样性（0.819592）。群体比较显示，捷克、巴伐利亚、奥地利和撒克逊样本集之间没有差异。在捷克和波兰样本集之间发现了微小差异。
对3个Y染色体微卫星多态性进行分型可能为已建立的Y-STR组提供有用的补充。
