Demand for larger Y-STR reference databases in ethnic melting-pot countries: Argentina as a test case

Area of Science:

• * Genetics
• * Forensic Science
• * Population Studies

Background:

• * The Y chromosome is crucial for forensic casework, kinship testing, and population genetics.
• * Increasing Y-chromosome short tandem repeat (STR) loci necessitate updated global reference databases.
• * Argentinian urban populations exhibit admixture from diverse ancestral ethnic groups.

Purpose of the Study:

• * To characterize the paternal lineage landscape in admixed urban populations across six Argentinean provinces.
• * To analyze the population structure using Y-STR haplotype data and published information.
• * To evaluate the utility of haplogroup inference methods and propose database organization strategies.

Main Methods:

• * Collection and analysis of 509 Y-STR haplotypes from 23 Y-STR loci in six Argentinean provinces.
• * Structural analysis integrating new data with published haplotype data from other Argentinean provinces.
• * Application of Analysis of Molecular Variance (AMOVA) by Rst distance.
• * Haplogroup inference using two predictive online software tools.

Main Results:

• * 509 additional Y-STR haplotypes from urban Argentinian donors were reported.
• * Complementary results from AMOVA and haplogroup inference methods indicated population structure.
• * Discrepancies in results were likely due to varying proportions of the Native American Q3-M3 haplogroup.
• * The study highlights the need for single nucleotide polymorphism (SNP) typing for accurate haplogroup diagnosis in admixed populations.

Conclusions:

• * Y-STR haplotype data provide insights into the demographic history of admixed paternal lineages in Argentina.
• * Current haplogroup inference methods and Y-STR data alone may not fully resolve population structure in highly admixed groups.
• * Organizing Y-STR haplotype reference databases by frequent haplogroups within specific admixed populations is recommended for enhanced utility.