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

Naida Babić Jordamović,Rijad Konjhodžić,Tamara Kojović,Damir Marjanović,Larisa Bešić,Adna Ašić,Serkan Dogan,Petar Projić,Lana Salihefendić,Vesna Hadžiavdić,Vedrana Škaro

doi:10.3389/fgene.2021.671467

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

Introduction

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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Results