Haplogroup Prediction Using Y-Chromosomal Short Tandem Repeats in the General Population of Bosnia and Herzegovina

Abstract

Human Y-chromosomal haplogroups are an important tool used in population genetics and forensic genetics. A conventional method used for Y haplogroup assignment is based on a set of Y-single nucleotide polymorphism (SNP) markers deployed, which exploits the low mutation rate nature of these markers. Y chromosome haplogroups can be successfully predicted from Y-short tandem repeat (STR) markers using different software packages, and this method gained much attention recently due to its labor-, time-, and cost-effectiveness. The present study was based on the analysis of a total of 480 adult male buccal swab samples collected from different regions of Bosnia and Herzegovina. Y haplogroup prediction was performed using Whit Athey’s Haplogroup Predictor, based on haplotype data on 23 Y-STR markers contained within the PowerPlex® Y23 kit. The results revealed the existence of 14 different haplogroups, with I2a, R1a, and E1b1b being the most prevalent with frequencies of 43.13, 14.79, and 14.58%, respectively. Compared to the previously published studies on Bosnian-Herzegovinian population based on Y-SNP and Y-STR data, this study represents an upgrade of molecular genetic data with a significantly larger number of samples, thus offering more accurate results and higher probability of detecting rare haplogroups.

Croatian Genetic Heritage: Renewed Y Chromosome Story Two Decades Later

“…The highest frequency of R1b haplogroup was reported in the subpopulation of Varaždin with a prevalence of 9% and in Pula with a frequency of 8,08%. Similar results were obtained in the Bosnian population based on 481 Y-STR profiles, whereby R1b accounted for 8,75% of the samples (189).…”

“…The highest frequency of R1b haplogroup was reported in the subpopulation of Varaždin with a prevalence of 9% and in Pula with a frequency of 8,08%. The most similar results were obtained in the Bosnian population based on 481 Y-STR profiles, whereby R1b accounted for 8,75% of the samples (10). Sublineage E1b1b (previously predominantly described as Eu 4 ( 12)) is the most frequent "neolithic haplogroup" for the males in this part of Europe (16).…”

“…In the other four subpopulations the frequency of haplogroup E1b1b was estimated: Hvar 11,54%, Pula 11,11%, Split 10,48% and Osijek 5,45%. According to the recently published results, this haplogroup is slightly less frequent than in the closest neighboring population of Bosnia and Herzegovina (14,58%) (10). There are two suggested theories about E1b1b arrival in Europe.…”

“…Y chromosome haplogroups can also be successfully predicted from Y-STR markers (Y-STR haplotype) using Y-STR haplogroup predicting tools. Lately, this method has gained much attention due to its labor-, time-, and cost-effectiveness (10). The haplotype helps analyze the influence of genes on disease-related alleles and represents the set of alleles on the same chromosome.…”

Croatian genetic heritage: an updated Y-chromosome story

“…Y-chromosome haplogroups can also be successfully predicted from Y-STR markers (Y-STR haplotype) by using Y-STR haplogroup predicting tools. Lately, this method has drawn attention due to its effectiveness in terms of labor, time, and costs (10). The haplotype helps us to analyze the influence of genes on disease-related alleles and represents the set of alleles on the same chromosome.…”