Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany.
Department of Statistical Genetics and Bioinformatics, Cologne Center for Genomics, University of Cologne, Germany.
Forensic Sci Int Genet. 2014 Sep;12(100):12-23. doi: 10.1016/j.fsigen.2014.04.008. Epub 2014 Apr 28.
In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.
在全球合作努力下，从 51 个国家的 129 个不同群体中抽取了 19630 条 Y 染色体。这些染色体被分为 23 个短串联重复（STR）基因座（DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS385ab、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635、GATAH4、DYS481、DYS533、DYS549、DYS570、DYS576 和 DYS643），并使用 PowerPlex Y23 系统（PPY23，Promega Corporation，Madison，WI）进行了分型。确定了这些标记物的特定基因座等位基因谱，观察到了高度的等位基因多样性。揭示了相当数量的无效、重复和偏离梯级等位基因。计算了标准的单基因座和单倍型参数，并在为法医工作建立的 Y-STR 标记子集中进行了比较。PPY23 标记集提供了比其他可用试剂盒更强的鉴别能力，但同时也揭示了与其他标记集相同的一般人口结构模式。观察到标记集中包含的 Y-STR 数量与一些研究中的法医参数之间存在很强的相关性。有趣的是，由于标记数量增加，遗传距离变小的趋势虽然微弱但很一致。
