A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

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.Peer reviewe

Standing at the Gateway to Europe - The Genetic Structure of Western Balkan Populations Based on Autosomal and Haploid Markers

<div><p>Contemporary inhabitants of the Balkan Peninsula belong to several ethnic groups of diverse cultural background. In this study, three ethnic groups from Bosnia and Herzegovina - Bosniacs, Bosnian Croats and Bosnian Serbs - as well as the populations of Serbians, Croatians, Macedonians from the former Yugoslav Republic of Macedonia, Montenegrins and Kosovars have been characterized for the genetic variation of 660 000 genome-wide autosomal single nucleotide polymorphisms and for haploid markers. New autosomal data of the 70 individuals together with previously published data of 20 individuals from the populations of the Western Balkan region in a context of 695 samples of global range have been analysed. Comparison of the variation data of autosomal and haploid lineages of the studied Western Balkan populations reveals a concordance of the data in both sets and the genetic uniformity of the studied populations, especially of Western South-Slavic speakers. The genetic variation of Western Balkan populations reveals the continuity between the Middle East and Europe via the Balkan region and supports the scenario that one of the major routes of ancient gene flows and admixture went through the Balkan Peninsula.</p></div

Principal component (PC) analysis of the variation of autosomal SNPs in Western Balkan populations in Eurasian context (PC1 <i>versus</i> PC2; see Table S1 for population data).

<p>Principal component (PC) analysis of the variation of autosomal SNPs in Western Balkan populations in Eurasian context (PC1 <i>versus</i> PC2; see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105090#pone.0105090.s022" target="_blank">Table S1</a> for population data).</p

Map of the Western Balkan region with triangles corresponding to the regions from where blood samples were collected.

<p>The sample of Bosnia and Herzegovina consisted of subsamples of three main ethnic groups: Bosniacs (Sarajevo and Zavidovici), Bosnian Croats (Central Bosnia - Zepce and Maglaj; South Bosnia and Herzegovina - Mostar, Grude, Livno, Capljina), Bosnian Serbs (Doboj and Banjaluka region); Croatia (mainland, Zagreb region), Serbia (Belgrade region), Montenegro (Podgorica), Kosovo (Pristina and Prizren) and Macedonia (Skopje).</p

TreeMix analysis of Western Balkan and surrounding populations (see Table S1 for population data).

<p>TreeMix graph represents the model of 10 gene-flow events within the sample. A. The population tree with gene-flow (migration) events. The scalebar specifies the weight of a migration, precise value of it is shown on the migration edges; B. Residuals plot; C. Ultrametric tree.</p

Average number of <i>ibd</i> segments per pair shared between Muslim Western Balkan populations (A – Bosniacs; B - Kosovars) and Middle Eastern (Saudis, Iranians, Syrians, Turks, Palestinians) and other non-Muslim Western Balkan populations (Bosnian Croats and Serbs, Croatians, Macedonians, Serbians, Montenegrins).

<p>Average number of <i>ibd</i> segments per pair shared between Muslim Western Balkan populations (A – Bosniacs; B - Kosovars) and Middle Eastern (Saudis, Iranians, Syrians, Turks, Palestinians) and other non-Muslim Western Balkan populations (Bosnian Croats and Serbs, Croatians, Macedonians, Serbians, Montenegrins).</p

Network of 29 populations constructed with the Neighbor-net approach from F_ST distances based on the variation of autosomal SNPs.

<p>Western Balkan populations are indicated with violet color.</p