No abstract

This study offers the first report on variation sequence of the mitochondrial cytochrome b (MT-CYTB) gene in populations from Bosnia (northeastern Bosnia). This study was designed on the analysis of the genetic diversity of two populations of different cultural-anthropological and genetic origin, Roma population and native/non-Roma population. The main aim of our study was to estimate the usefulness of the CYTB sequence in the analysis of genetic categorization of different populations and intergroup diversity, as well as to provide some additional information on haplogroup-associated polymorphisms within the CYTB region in defining haplogroup status. Estimation of the genetic diversity was done using intra and intergroup genetic indices. The population-specific polymorphisms have been found in both categories of the populations. The results of the analysis of genetic differentiation show significant pairwise Fst differences between the Romani and native populations. Also, registered significant genetic differentiation is illustrated on the level of genetic variation between subpopulations of the Roma and non-Roma origin. The important result in our study is the confirmation of the significance of the triad of polymorphisms T14783C-G15043A-G15301A, indicating the influence of Asian component of the maternal gene pool on the genetic structure of the studied population of the Roma. Our data show that the haplogroup polymorphisms exist in the CYTB region and can provide useful information on the haplogroups that were defined only by the control region of the mtDNA. The results of this study indicate the region of CYTB gene can be a benefit in providing some additional information in the analysis of genetic structure of human populations and can be additionally applied in population studies.

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.