X-STR analysis: Allele and haplotype diversity in the population of Bosnia and Herzegovina

Abstract

With the aim to improve the present X-STR database regarding the population of Bosnia and Herzegovina (B&H), we report the genetic data from 228 unrelated adults residing in different regions of B&H that were genotyped using the QIAGEN's Investigator® Argus X-12 kit which detects 12 STR markers distributed over the entire X-chromosome as four distinct linkage groups. Our results indicate that the 12 X-STR loci examined are highly polymorphic in the B&H population. Distribution of allele frequencies, calculated only for female samples, did not show significant deviation from Hardy-Weinberg equilibrium (p > 0.05). Moreover, PIC values for all analyzed X-STR loci and sample groups proved to be high (PIC≥0.6); the most informative X-STR marker is DXS10135 (for male, female and pooled samples: 0.918647, 0.912071 and 0.918621, respectively) and the most informative linkage group is LG I (PIC = 0.988903076). Also, B&H population was compared to other 14 populations; no significant differences were observed between B&H and neighboring populations of Serbia, Slovenia and Croatia. Contrariwise, the greatest genetic distance was observed in comparison with South African population (0.1449). Overall, this paper is the first report of forensically relevant parameters, allele and haplotype frequencies for the 12 X-STR loci included in the Investigator® Argus X-12 marker system in the population of Bosnia and Herzegovina. Also, this study strongly supports the application of X-STR markers for human identification, provides new insights into the genetic structure of contemporary population and contributes to the existing database of B&H population.

Keywords: B&H population; Genetic distance; Intrapopulation diversity; Investigator® Argus X-12 kit; Population genetics; X-linked STR markers.