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.
Highlights
The paternally inherited non-recombining portion of the Y chromosome (NRY) is the material of choice when it comes to tracing the paternal lineage of populations (Jobling and TylerSmith, 2003; Butler, 2012; Felkel et al, 2019)
The two most important classes of Y-chromosomal markers deployed in such studies are short tandem repeats (Y-STRs) and single nucleotide polymorphisms (Y-SNPs), and as these markers are transmitted directly by paternal lineage without recombination, they are highly sensitive to genetic drift and allow for a very informative haplotype construction (Butler, 2012; Mahal and Matsoukas, 2018)
A single Y haplogroup represents a group or a family of Y chromosomes related by descent or ancestry, and each such haplogroup is determined by a specific set of Y-SNPs, which makes them extremely important when it comes to better understanding of past migrations and demographic processes that shaped modern populations (Marjanović et al, 2006)
Summary
The paternally inherited non-recombining portion of the Y chromosome (NRY) is the material of choice when it comes to tracing the paternal lineage of populations (Jobling and TylerSmith, 2003; Butler, 2012; Felkel et al, 2019). A single Y haplogroup represents a group or a family of Y chromosomes related by descent or ancestry, and each such haplogroup is determined by a specific set of Y-SNPs, which makes them extremely important when it comes to better understanding of past migrations and demographic processes that shaped modern populations (Marjanović et al, 2006). Since Y-SNP detection and analysis is costly, time-consuming, labor intensive, and multiple markers are required to be analyzed prior to final determination of an individual’s haplogroup, innovative approaches have recently been investigated. These approaches are mainly related to Y haplogroup prediction using a set of Y-STR markers or a haplotype (Dogan et al, 2016b)
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