title: Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs.
abstract: Tests that infer the ancestral origin of a DNA sample have considerable potential in the development of forensic tools that can help to guide crime investigation. We have developed a single-tube 34-plex SNP assay for the assignment of ancestral origin by choosing ancestry-informative markers (AIMs) exhibiting highly contrasting allele frequency distributions between the three major population-groups. To predict ancestral origin from the profiles obtained, a classification algorithm was developed based on maximum likelihood. Sampling of two populations each from African, European and East Asian groups provided training sets for the algorithm and this was tested using the CEPH Human Genome Diversity Panel. We detected negligible theoretical and practical error for assignments to one of the three groups analyzed with consistently high classification probabilities, even when using reduced subsets of SNPs. This study shows that by choosing SNPs exhibiting marked allele frequency differences between population-groups a practical forensic test for assigning the most likely ancestry can be achieved from a single multiplexed assay.
authors.affiliation: Forensic Genetics Department, University of Santiago de Compostela, 15782, and Centro Nacional de Genotipado (CeGen), Hospital Clínico Universitario, 15706 Galicia, Spain. c.phillips@mac.com
authors.forename: C
authors.initials: C
authors.lastname: Phillips
authors.forename: A
authors.initials: A
authors.lastname: Salas
authors.forename: J J
authors.initials: JJ
authors.lastname: Sánchez
authors.forename: M
authors.initials: M
authors.lastname: Fondevila
authors.forename: A
authors.initials: A
authors.lastname: Gómez-Tato
authors.forename: J
authors.initials: J
authors.lastname: Alvarez-Dios
authors.forename: M
authors.initials: M
authors.lastname: Calaza
authors.forename: M Casares
authors.initials: MC
authors.lastname: de Cal
authors.forename: D
authors.initials: D
authors.lastname: Ballard
authors.forename: M V
authors.initials: MV
authors.lastname: Lareu
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
mesh_terms: D000465:Algorithms; D000483:Alleles; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D030561:Databases, Nucleic Acid; D053803:Forensic Genetics / Q000379:methods* / Q000706:statistics & numerical data; D005787:Gene Frequency; D005828:Genetics, Population / Q000379:methods* / Q000706:statistics & numerical data; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D004247:DNA