title: Multiplex PCR development of Y-chromosomal biallelic polymorphisms for forensic application.
abstract: Single-nucleotide polymorphisms of Y chromosome (Y-SNPs) are a class of markers of interest in forensic investigations, because many of them show regional specificity, providing useful information about the geographic origin of a subject or evidence under investigation. A first multiplex with 7 SNPs (M35, M89, M9, M170, M172, M45, M173), which occur in the basal branches of the phylogenetic tree and are able to assign a subject to known most frequent European haplogroups, was designed. SNP genotyping was accomplished by hot-start PCR with primers amplifying fragments between 96 and 136 nucleotides, minisequencing, and capillary electrophoresis of extension products. Ninety seven subjects of known geographic provenance were studied, of which 68 from Europe. Of these, 57 had mutations found more frequently in European haplogroups and 11 more frequent in Asian populations. Subjects from non-European countries were also examined and had haplogroups common in their regions of provenance. Experiments with low molecular weight DNA gave positive amplification from 1 ng of DNA for all seven SNPs.
authors.affiliation: Istituto di Medicina Legale, Università Politecnica delle Marche, I-60020 Ancona, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Alessandrini
authors.forename: Chiara
authors.initials: C
authors.lastname: Turchi
authors.forename: Valerio
authors.initials: V
authors.lastname: Onofri
authors.forename: Loredana
authors.initials: L
authors.lastname: Buscemi
authors.forename: Mauro
authors.initials: M
authors.lastname: Pesaresi
authors.forename: Adriano
authors.initials: A
authors.lastname: Tagliabracci
mesh_terms: D000349:Africa; D001208:Asia; D044466:Asian People / Q000235:genetics; D044383:Black People; D041322:Chromosomes, Human, Y; D004247:DNA / Q000032:analysis; D017931:DNA Primers; D005060:Europe; D049429:Forensic Pathology; D005843:Geography; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D013020:South America; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D004247:DNA