Paternal genetic structure of the Bosnian-Herzegovinian Roma: A Y-chromosomal STR study.

OBJECTIVES: Studies indicate the complex nature of the genetic structure of the European Roma which has been shaped by different effects of their demographic history, while preserving their ancestral Indian origin. The primary aims of this study were to present for the first time the paternal profiles of the Roma from Bosnia and Herzegovina based on the data from Y-chromosome STR loci, identify the components of non-Roma paternal gene flow into the Roma, and evaluate the genetic relationships with other European Roma populations. MATERIALS AND METHODS: In this study, 110 DNA samples of unrelated males from Roma populations residing in different regions of Bosnia and Herzegovina were genotyped using the 23 Y-STR loci included in the PowerPlex Y23 system. RESULTS: The analysis of the genetic structure of the Bosnian-Herzegovinian Roma revealed intra-country population substructuring and indicated differing genetic affinities between the Bosnian-Herzegovinian Roma and other European Roma populations. The paternal genetic structure of the Bosnian-Herzegovinian Roma has two components: an ancestral component represented by haplogroup H1a1a-M82, and European component presented by haplogroups I1-M253, I2a1a2b-L621, J2a1a-L26, J2a1a1a2b2a3~Z7671, J2b2a-M241, G2a2b2a1a1b-L497, and E1b1b-M215. CONCLUSION: Genetic relations between the Bosnian-Herzegovinian Roma and other European Roma are shaped by different influences on their demographic history. The data suggest that the paternal gene pool of the Roma from Bosnia and Herzegovina might be a consequence of an early separation of the proto-Roma population and the later gene flow as well as factors of the isolation that accompany the Roma populations in some Bosnian-Herzegovinian regions.

Molecular Variation of Rh, MN, Duffy, Kidd, Kell, and Lutheran Blood Groups in the Human Population of Bosnia and Herzegovina.

Six blood groups (Rh, MN, Duffy, Kidd, Kell, and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs), as well as 10 regional subpopulations across Bosnia and Herzegovina (B&H): Krajina; Posavina; northeastern, eastern, middle, and central Bosnia; Sarajevo region; eastern, central, and western Herzegovina. This is the first study that introduces the molecular genetic typing of five blood groups within the B&H population, with the exception of the RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by PCR with sequence specific primers, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-restriction-fragment-length polymorphism method. Minor variation of genetic diversity was observed within the three major B&H ethnic groups, as well as within the 10 subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three B&H ethnic groups belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations, with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the B&H population with other European and non-European populations, based on three loci (RHD, MN, and KEL), clearly show that the level of genetic diversity of the B&H population is within the European range.

Mitochondrial DNA diversity of the Roma from northeastern Bosnia, Bosnia and Herzegovina.

This study is the first report on the mtDNA diversity in the Roma population from Bosnia. The main aim of this study was to analyse the mtDNA diversity in the studied population, evaluate the genetic relations with other European Roma populations, and analyse the influences of the Roma gene flow on the mitochondrial profile of the Roma from northeastern Bosnia. MtDNA variability in the analysed population has been studied by means of hypervariable segment I and II (HVSI/II) of the control region sequencing and analysis of restriction fragment-length polymorphisms of the coding region. Our results show that genetic structure of the Roma from northeastern Bosnia has a combination of lineages of three main layers: specific founder of Indian origin (M5a1 and M35b) and founder non-M lineages of Indian/European origin (H7a, X2b and X2d) and lineages of European/Middle East origin (H, H1, H11a, V, T2b, K1b and W). The distribution of the haplogroups in the gene pool of the comparative European Roma populations indicates the separate origin of the Bosnian Roma and the Bulgarian Vlax and Croatian Vlax Roma. The data suggest that mitochondrial gene pool of the Roma population from northeastern Bosnia might be a consequence of early parting and the later different migration routes that are part of their demographic history. Our data confirm the high genetic heterogeneity of the Roma populations that can be shaped by effects of genetic drift, isolation and low effective population size, and this correlates with the migratory history of the Roma.

Historical Overview of the Human Population-Genetic Studies in Bosnia and Herzegovina: Small Country, Great Diversity.

Modern Bosnia and Herzegovina is a multinational and multi-religious country, situated in the western part of the Balkan Peninsula in South-eastern Europe. According to recent archaeological fi ndings, Bosnia and Herzegovina has been occupied by modern humans since the Palaeolithic period. The structure of Bosnia-Herzegovina's human populations is very complex and specifi c, due to which it is interesting for various population-genetic surveys. The population of Bosnia and Herzegovina has been the focus of bio-anthropological and population genetics studies since the 19th century. The fi rst known bio-anthropological analyses of Bosnia-Herzegovina population were primarily based on the observation of some phenotypic traits. Later examinations included cytogenetic and DNA based molecular markers. The results of all studies which have been done up to date showed no accented genetic difference among the populations (based on geographical regions) with quite high diversity within them. Human population of Bosnia and Herzegovina is closely related to other populations in the Balkans. However, there are still many interesting features hidden within the existing diversity of local human populations that are still waiting to be discovered and described.

Frequency of main western-Euroasian mtDNA haplogroups and paleolithic and neolithic lineages in the genetic structure of population of northeastern Bosnia.

Mitochondrial DNA (mtDNA) variations were analyzed in a sample of 245 individuals of Bosnian-Herzegovinian population from the area of Northeastern Bosnia (also known as Tuzla region). Haplogroup affiliation was determined using RFLP method (Restriction Fragment Length Polymorphism) analyzing haplogroup-specific markers of mtDNA coding region, characteristic for the main Western-Eurasian haplogroups. Additional analyses of two sequenced hypervariable segments (HVSI and HVSII) of mtDNA control region were performed in order to identify U subhaplogroups. The study revealed that 95.51% of the analyzed individuals belonged to the typical Western-Eurasian haplogroups: H, I, J, K, T U, V, W or X. The most frequent haplogroup in the analyzed population was the haplogroup H (52.65%) which, due to its increased frequency, represents a marking haplogroup of the population of Northeastern Bosnia. The results of intergroup genetic analysis showed that Bosnian-Herzegovinian population is genetically closer to previously studied populations of Herzegovinians (part of Bosnia and Herzegovina), Slovenians and Croats in relation to other neighboring populations located in Southeastern Europe. Our study also suggests that population genetic structure of Tuzla region is dominated by mutations that are classified as "Paleolithic". These mutations were probably brought to the area of northeastern Bosnia through waves of prehistoric and historic migrations, but the impact of any pre-Neolithic, Neolithic or some "later" migrations, with a slightly lower contribution to the genetic structure of this population, also cannot be neglected.

Molecular-genetic variance of RH blood group system within human population of Bosnia and Herzegovina.

There are two major theories for inheritance of Rh blood group system: Fisher - Race theory and Wiener theory. Aim of this study was identifying frequency of RHDCE alleles in Bosnian - Herzegovinian population and introduction of this method in screening for Rh phenotype in B&H since this type of analysis was not used for blood typing in B&H before. Rh blood group was typed by Polymerase Chain Reaction, using the protocols and primers previously established by other authors, then carrying out electrophoresis in 2-3% agarose gel. Percentage of Rh positive individuals in our sample is 84.48%, while the percentage of Rh negative individuals is 15.52%. Inter-rater agreement statistic showed perfect agreement (K=1) between the results of Rh blood system detection based on serological and molecular-genetics methods. In conclusion, molecular - genetic methods are suitable for prenatal genotyping and specific cases while standard serological method is suitable for high-throughput of samples.

Polymorphic Alu insertions in human populations of Bosnia and Herzegovina.

BACKGROUND: From a demographic and genetic perspective, Bosnia and Herzegovina is interwoven with a number of differentially isolated local populations of indigenous people with different population and religious backgrounds. AIM: In order to estimate their genetic structure, this study investigated the frequencies of 10 Alu polymorphic loci in 10 regional populations distributed across Bosnia and Herzegovina. Genetic differentiation among the three major population groups in Bosnia and Herzegovina was estimated. SUBJECTS AND METHODS: DNA from 506 unrelated individuals was extracted from buccal swabs using the salting-out extraction method. Each DNA sample was PCR-amplified using locus-specific primers. RESULTS: Gene diversity values showed similarity in all analysed populations and ranged from 0.305-0.328. FST values for all loci showed that most variability is found within populations. Overall FST for all loci and AMOVA indicated that most variability was detected within populations. CONCLUSION: Results of this study are in agreement with the previous studies, indicating that the three populations in Bosnia and Herzegovina have the same genetic background. There is no significant differentiation among regional populations, pointing to absence of geographic influence. The Bosnian population is clearly located within the European gene pool.