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Multiplex PCR development of Y-chromosomal biallelic polymorphisms for forensic application
Federica Alessandrini1, Chiara Turchi, Valerio Onofri
1Istituto di Medicina Legale, Università Politecnica delle Marche, I-60020 Ancona, Italy.
Journal of Forensic Sciences
|June 4, 2005
Summary
Forensic investigations can benefit from Y-chromosome single-nucleotide polymorphisms (Y-SNPs) for determining geographic origin. A new multiplex assay successfully identified European and Asian haplogroups in diverse subjects.
Area of Science:
- Forensic genetics
- Human population genetics
- Molecular anthropology
Background:
- Y-chromosome single-nucleotide polymorphisms (Y-SNPs) are valuable forensic markers due to their regional specificity.
- These markers can provide crucial information about the geographic ancestry of individuals or forensic evidence.
Purpose of the Study:
- To design and validate a multiplex assay for genotyping seven Y-SNPs.
- To assess the utility of these Y-SNPs in assigning individuals to major European and Asian haplogroups.
Main Methods:
- Development of a multiplex assay targeting seven basal Y-SNPs (M35, M89, M9, M170, M172, M45, M173).
- Genotyping using hot-start PCR, minisequencing, and capillary electrophoresis.
- Analysis of 97 subjects with known geographic origins, including 68 Europeans.
Main Results:
- The multiplex assay successfully assigned subjects to their respective geographic haplogroups (European and Asian).
- Fifty-seven European subjects carried mutations common in European haplogroups, while 11 showed Asian affinities.
- Non-European subjects exhibited haplogroups consistent with their regions of origin.
- The assay demonstrated reliable amplification from as little as 1 ng of low molecular weight DNA.
Conclusions:
- The developed multiplex Y-SNP assay is effective for determining geographic ancestry in forensic contexts.
- This tool aids in assigning individuals to major European and Asian haplogroups, enhancing forensic investigations.