Y-chromosomal STR haplotypes in Pakistani populations

Area of Science:

• Forensic genetics
• Population genetics
• Human genetics

Background:

• Short tandem repeat (STR) loci are crucial markers for human identification and population studies.
• Y-chromosome STR (Y-STR) analysis provides insights into paternal lineage and population history.
• Understanding genetic diversity in Pakistan is important due to its diverse ethnic landscape.

Purpose of the Study:

• To analyze genetic variation at 16 Y-STR loci in 711 males from 12 Pakistani populations.
• To determine haplotype diversity and population substructuring within Pakistan.
• To identify potential shared haplotypes indicative of specific ethnic group origins.

Main Methods:

• Analysis of 16 Y-specific STR loci.
• Genotyping of 711 male individuals from 12 distinct populations in Pakistan.
• Haplotype reconstruction and diversity calculations.

Main Results:

• Individual loci exhibited 4 to 10 alleles with diversities ranging from 0.07 to 0.77.
• A total of 527 unique haplotypes were identified, with high overall haplotype diversity (0.92-0.99).
• Two significant instances of haplotype sharing were observed: one involving 13 Parsis and another involving 17 individuals, predominantly Brahuis, suggesting population substructuring.

Conclusions:

• The study highlights considerable genetic diversity within Pakistani male populations.
• Observed haplotype sharing provides strong evidence for distinct population substructures, particularly among Parsis and Brahuis.
• Y-STR data can effectively delineate population-specific genetic profiles and historical relationships.