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Development of a novel forensic STR multiplex for ancestry analysis and extended identity testing
Author(s) -
Phillips Chris,
FernandezFormoso Luis,
GelabertBesada Miguel,
GarciaMagariños Manuel,
Santos Carla,
Fondevila Manuel,
Carracedo Ángel,
Lareu Maria Victoria
Publication year - 2013
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.201200621
Subject(s) - str multiplex system , multiplex , genetic genealogy , genotyping , genetics , dna profiling , str analysis , biology , forensic identification , snp , snp genotyping , ancestry informative marker , microsatellite , pedigree chart , population , allele frequency , computational biology , genotype , allele , single nucleotide polymorphism , dna , medicine , gene , environmental health
There is growing interest in developing additional DNA typing techniques to provide better investigative leads in forensic analysis. These include inference of genetic ancestry and prediction of common physical characteristics of DNA donors. To date, forensic ancestry analysis has centered on population‐divergent SNP s but these binary loci cannot reliably detect DNA mixtures, common in forensic samples. Furthermore, STR genotypes, forming the principal DNA profiling system, are not routinely combined with forensic SNP s to strengthen frequency data available for ancestry inference. We report development of a 12‐ STR multiplex composed of ancestry informative marker STR s ( AIM ‐ STR s) selected from 434 tetranucleotide repeat loci. We adapted our online B ayesian classifier for AIM ‐ SNP s: Snipper , to handle multiallele STR data using frequency‐based training sets. We assessed the ability of the 12‐plex AIM ‐ STR s to differentiate CEPH H uman G enome D iversity P anel populations, plus their informativeness combined with established forensic STR s and AIM ‐ SNP s. We found combining STR s and SNP s improves the success rate of ancestry assignments while providing a reliable mixture detection system lacking from SNP analysis alone. As the 12 STR s generally show a broad range of alleles in all populations, they provide highly informative supplementary STR s for extended relationship testing and identification of missing persons with incomplete reference pedigrees. Lastly, mixed marker approaches (combining STR s with binary loci) for simple ancestry inference tests beyond forensic analysis bring advantages and we discuss the genotyping options available.