Abstract
BackgroundThe Y chromosome polymorphism has been widely studied for human migrations, population genetics, forensic applications, and paternity analysis. However, studies regarding genetic lineage and population genetic structure of the Y chromosome in different regions of Saudi Arabia are limited.AimThis study aimed to analyze the distribution of Y chromosome haplotypes in a sample of 125 native Saudi males from different geographic regions of Saudi Arabia and compare to previously published Y chromosome haplotype data from Saudi Arabia and some neighboring Arab populations.Materials and methodsBuccal swabs were collected from 125 healthy unrelated native Saudi males from different geographic regions of Saudi Arabia. Genomic DNA was extracted by Chelex®100; 17 Y-STR loci were amplified using the AmpFℓlSTR Yfiler PCR amplification kit and detected on the 3130 Genetic AnalyzerTM. Allele frequency and gene diversity were calculated with online tool STRAF. The Saudi population data were compared with the neighboring populations using pairwise genetic distances and associated probability values were calculated using the Y Chromosome Haplotype Reference Database Website (YHRD) software.Results and conclusionOne hundred six YSTR haplotypes and 102 YSTR alleles (excluding 4 null alleles) were identified having a discrimination capacity (DC) of 85.8%. The highest haplotype diversity (HD) and gene diversity (GD) were observed at the loci DYS 458 (0.817) and DYS385b (0.807), respectively. According to our results, the Iraqi and Qena (Egypt) populations appeared to have closer relatedness to the Saudi population as compared with Yemen. The UAE and Kuwait populations showed the same degree of relatedness to the Saudi population followed by Bahrain. On the contrary, the Adnanit and Qahtanit populations of Jordan demonstrated low genetic distance from the Saudi population. In short, studying a population sample of pure Saudi ethnicity enabled us to identify a unique set of haplotypes which may help in establishing genetic relatedness between Saudi and the neighboring Arab populations. The present paper, therefore, highlights the importance of ensuring ethnic originality of the study sample while conducting population genetics studies.
Highlights
The Y chromosome polymorphism has been widely studied for human migrations, population genetics, forensic applications, and paternity analysis
Studying a population sample of pure Saudi ethnicity enabled us to identify a unique set of haplotypes which may help in establishing genetic relatedness between Saudi and the neighboring Arab populations
We present analysis of Y chromosome haplotypes in 125 native Saudi males from different geographic regions of Saudi Arabia, using the AmpFlSTR® YFiler® Amplification kit (Life Technologies, USA)
Summary
The Y chromosome polymorphism has been widely studied for human migrations, population genetics, forensic applications, and paternity analysis. Genetic variations in the KSA were contributed earlier by nomadic or Bedouin tribes and clans (Gordon 2005) living in small groups of Persians, Turks, black Africans, and other ethnicities originating from sub-Saharan Africa along the Red Sea coast (Bowen 2014). The annual pilgrimage (Hajj) to Mecca has long brought hundreds of thousands of migrants representing various ethnic groups from Arab (Jordan, Iraq, Yemen), Asian, and Far Eastern countries to the KSA who overstayed and settled in and around Makkah, Jeddah, and Medina, (Fig. 1) (Ochsenwald and Philby 2016). Majority of the native Saudi population subgroups in the northern, central (excluding Riyadh), western (excluding Jeddah and Makkah), southern, and eastern regions remained genetically distinct because of their adherence to the consanguineous marriage practice (El-Hazmi et al 1995)
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