The Roma are a minority group that do not share a common homeland, speak different languages and consist of individuals of various religions. Population-genetic studies of Roma, as a transnational isolate, have mostly sought to compare their genetic affinities with proposed parental populations. The aim of this study is to assess the genetic structure of the Bayash Roma population from northwestern Croatia, and in the general Croatian population, to investigate the extent of admixture between them. Population differentiation and structure was analyzed on a set of genetic microsatellite data from two original studies (100 Bayash Roma from northwestern Croatia and 195 individuals from the general Croatian population). Results demonstrated that two population clusters best explain the genetic structure. Most of the individuals of the Bayash Roma population were assigned to a single genetic cluster and most of the individuals of the general Croatian population were assigned to another. Admixture analysis revealed that the percentage of non- Croatian individuals in general Croatian population is approximately twofold higher than percentage of non-Romani individuals in Romani population. Higher percentages of admixed and non-Croatian individuals found in the general Croatian population and lower percentages of admixed and non-Roma individuals found in the Bayash Roma population is in line with the presence of ethnomimicry in Roma.

Autosomal short tandem repeats (STRs) are the most widely used DNA markers in forensic investigation of the population history, human migration patterns, and genealogical research. In this study, the usefulness of 13 most widely used STR loci (D3S1358, TH01, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, and FGA) was examined along with the investigation of their application in the studies of the phylogeny of human populations. We compared allele frequencies of STR loci of the populations from the Balkan Peninsula to determine the similarities and differences among them and to determine how informative they are when it comes to the human identity testing. We made UPGMA phylogenetic tree using POPTREE2 software and Nei’s table of genetic distances using MEGA5.21 software. Additionally, MDS (multidimensional scaling) plot was generated using SPSS 20.0 software. The results implied that both geographical proximity and shared history are determining the strong clustering of the populations on the Balkans. Another conclusion drawn from this overview is that the studied STR markers are highly polymorphic and thus, satisfyingly informative to be used for human identity testing and phylogenetic research.

Being a crossroad of many ancient and recent historical migrations, Bosnia and Herzegovina (B&H) represents unique spot of multicultural and social diversity. The main aim of this study was to assess genetic structure of three local populations of mountain area from central part of B&H using mtDNA HVS-1 as an informative marker for population genetics studies. A 444 bp HVS-1 segment of control region of mtDNA extracted from buccal swabs was PCR amplified and sequenced. Haplotype and nucleotide diversity, average number of nucleotide differences, AMOVA and pairwise FST based on mtDNA haplotype and haplogroup frequencies were calculated. NJ tree was constructed based on pairwise FST results. Tajima’s D was calculated to evaluate population demographic status.

Allele frequencies of 15 STRs included in the PowerPlex 16 System (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX and FGA) were calculated from the referent sample of 100 unrelated individuals of both sexes from Turkish student population living in Sarajevo, Bosnia and Herzegovina. Buccal swab, as a source of DNA, was collected from the volunteers from whom the informed consent form was obtained. DNA extraction was performed using QIAamp DNA Micro kit by Qiagen. DNA template ranging from 0.5 to 2 ng was used to amplify 15 STR loci by PCR multiplex amplification which was performed by using the PowerPlex 16 kit (Promega Corp., Madison, WI, USA) according to the manufacturer's protocol. The amplifications were carried out in a PE Gene Amp PCR System thermal cycler (Applied Biosystems) and capillary electrophoresis was carried out in an ABI PRISM 310 Genetic Analyzer (Applied Biosystems) in accordance with the manufacturer's recommendations. The frequency of each locus was calculated from the numbers of each observed genotype. Deviation from Hardy-Weinberg equilibrium and observed heterozygosity were calculated. Data were analyzed by using Microsoft Excel workbook template--Powerstats V12 and the power of discrimination (PD), power of exclusion (PE), as well as other population genetic indices for the 15 STR loci were calculated. Obtained results contribute to existing Turkish DNA database, as well as insight of differences and similarities in comparison to population of Bosnia and Herzegovina. In addition, 13 autosomal STR loci frequencies (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSFIPO, Penta D, VWA, D8S1 179, TPOX, and FGA) were studied in 15 different worldwide populations (Turkish, Bosnian, Croatian, Serbian, Montenegrin, Macedonian, Albanian, Kosovan, Greek, Russian, Japanese, Korean, Lithuanian, Iraqi, Belarusian). For the proof of corresponding data, two different Turkish population STR data obtained from previously published articles were compared with our data and this showed that our data correspond to these 2 previously published data. Further, STR allele frequency data for 13 loci for each population were obtained from previous scientific articles and the allele frequencies and genetic diversity among the 15 sample populations were compared. In addition, even though the populations are from different nationalities, the STR data are similar among the geographically close populations. The phylogenetic tree established among worldwide populations and genetic distance values show a great affinity among the 15populations. Our data is useful for anthropological and further comparative genetic studies of populations.

Abstract The origin and history of the Ashkenazi Jewish population have long been of great interest, and advances in high-throughput genetic analysis have recently provided a new approach for investigating these topics. We and others have argued on the basis of genome-wide data that the Ashkenazi Jewish population derives its ancestry from a combination of sources tracing to both Europe and the Middle East. It has been claimed, however, through a reanalysis of some of our data, that a large part of the ancestry of the Ashkenazi population originates with the Khazars, a Turkic-speaking group that lived to the north of the Caucasus region ∼1,000 years ago. Because the Khazar population has left no obvious modern descendants that could enable a clear test for a contribution to Ashkenazi Jewish ancestry, the Khazar hypothesis has been difficult to examine using genetics. Furthermore, because only limited genetic data have been available from the Caucasus region, and because these data have been concentrated in populations that are genetically close to populations from the Middle East, the attribution of any signal of Ashkenazi-Caucasus genetic similarity to Khazar ancestry rather than shared ancestral Middle Eastern ancestry has been problematic. Here, through integration of genotypes from newly collected samples with data from several of our past studies, we have assembled the largest data set available to date for assessment of Ashkenazi Jewish genetic origins. This data set contains genome-wide single-nucleotide polymorphisms in 1,774 samples from 106 Jewish and non-Jewish populations that span the possible regions of potential Ashkenazi ancestry: Europe, the Middle East, and the region historically associated with the Khazar Khaganate. The data set includes 261 samples from 15 populations from the Caucasus region and the region directly to its north, samples that have not previously been included alongside Ashkenazi Jewish samples in genomic studies. Employing a variety of standard techniques for the analysis of population-genetic structure, we found that Ashkenazi Jews share the greatest genetic ancestry with other Jewish populations and, among non-Jewish populations, with groups from Europe and the Middle East. No particular similarity of Ashkenazi Jews to populations from the Caucasus is evident, particularly populations that most closely represent the Khazar region. Thus, analysis of Ashkenazi Jews together with a large sample from the region of the Khazar Khaganate corroborates the earlier results that Ashkenazi Jews derive their ancestry primarily from populations of the Middle East and Europe, that they possess considerable shared ancestry with other Jewish populations, and that there is no indication of a significant genetic contribution either from within or from north of the Caucasus region.

Aim To detect polymorphisms of 23 Y-chromosomal short tandem repeat (STR) loci, including 6 new loci, in a reference database of male population of Bosnia and Herzegovina, as well as to assess the importance of increasing the number of Y-STR loci utilized in forensic DNA analysis. Methods The reference sample consisted of 100 healthy, unrelated men originating from Bosnia and Herzegovina. Sample collection using buccal swabs was performed in all geographical regions of Bosnia and Herzegovina in the period from 2010 to 2011. DNA samples were typed for 23 Y STR loci, including 6 new loci: DYS576, DYS481, DYS549, DYS533, DYS570, and DYS643, which are included in the new PowerPlex® Y 23 amplification kit. Results The absolute frequency of generated haplotypes was calculated and results showed that 98 samples had unique Y 23 haplotypes, and that only two samples shared the same haplotype. The most polymorphic locus was DYS418, with 14 detected alleles and the least polymorphic loci were DYS389I, DYS391, DYS437, and DYS393. Conclusion This study showed that by increasing the number of highly polymorphic Y STR markers, to include those tested in our analysis, leads to a reduction of repeating haplotypes, which is very important in the application of forensic DNA analysis.

Despite of an overall low differentiation in human population, especially in Europe area, varial local factors such as geographic, cultural or continuing reproductive isolation can enhance genetic discontinuity. As some of the few persisting isolates among contemporary South- Eastern European (SE European) human groups, isolated Croatian islands are among the most suitable models for analyses of human population differentiation. In this study the data obtained by means of the analysis of 9 autosomal STR loci of microsatelite DNA in Croatian islands and Slovenian populations were integrated with the published data from other Croatian islands and wide SE European region. The sample was defined hierarchically in two levels: the first one included 7 Croatian islands sub-populations and the second one included 10 neighboring SE European populations. We detected lower genetic differentiation at the higher lever of grouping of SE European populations (K = 3) than at the level of sub-populations of Croatia islands (K = 6). Results obtained with the clustering algorithm implemented by STRUCTURE illustrate that a relatively small number of loci is sufficient to reveal consistent structure when differentiation is high. These findings are supportive of the notion that specific genetic features of isolated Croatian islands have been shaped through the constant interaction of population genetic characteristic and wide spectrum of environmental influences through history. Due to strong influence of genetic drift, small isolates rapidly acquire very distinctive alleles frequencies.

Population substructuring due to organization into small groups has probably been a characteristic demographic feature during the vast majority of human population history, and persists today to a greater or lesser extent in many rural areas. As some of the few persisting isolates among contemporary South-Eastern European (SE European) human groups, isolated Croatian islands are among the most suitable models for theoretical analyses differentiation and substructuring. In this study the data obtained by means of the analysis of 9 autosomal STR loci of microsatellite DNA in Croatian islands and Slovenian populations were integrated with the published data from other Croatian islands and wide SE European region. The sample was defined hierarchically and the influence of isolation of the Croatian insular populations on substructuring of the population of Croatia, as well as the influence of the regional population groups on substructuring of South- Eastern Europe was detected. Due to the decreased influence of endogamy, lower genetic differentiation was detected at the higher level of grouping of SE European populations (FST = 0, 002) than at the level of sub-populations of Croatia (FST = 0, 005). Finally, the influence of substructuring of the aforementioned levels on the calculation of forensic statistical parameters was determined. It was found that the isolation of Croatian insular populations affects the value of forensic parameters. This led to the modelling of adequate sampling of the entire population when creating the DNA database of genetic STR markers that would reflect all characteristics of its subpopulations.

Diversity of nuclear microsatellite markers were analyzed in a reference sample of the population of northeast Bosnia and Herzegovina. 437 samples taken from unrelated individuals were processed and three samples of paternity proof were shown. Detection effectiveness profile of the research, points to a valid choice of method of extraction, amplification and genotyping short tandem repeat (STR) loci with PowerPlextm16 kit. Genetic analysis of allelic variants of the 15 STR loci PowerPlextm16 kit detected 17 samples determined as rare allelic variants or microvariants. Samples were divided into 15 different allelic variants at 7 different loci, and are: in locus D7S820, D16S539, D3S1358, D18S51, PENTA D, PENTA E and in locus vWA. Genetic analysis of mutations in cases of paternity determined three examples of single-step mutations in the loci FGA, Penta D and D3S1358. Genetic analysis of observed STR loci detected three allelic variant of genotype combination 7/10/11.3 in locus D7S820 Type II. Population genetic analysis of STR loci in a representative sample of the population of northeast Bosnia and Herzegovina included the application of the assessment tests of within-population genetic diversity and interpopulation diversity, as well as genetic differentiation between populations: North-eastern Bosnia and Herzegovina (BH) and BH general reference, then the Croatian population, Macedonian, Serbian and Slovenian. Based on the result analysis of specific forensic parameters, it can be assumed that the most informative marker is PENTA E for population genetic analysis and forensic testing in the population of northeast Bosnia and Herzegovina. Research results fit regional STR database of this part of Europe.