Multiplex PCR Development of Y-chromosomal Biallelic Polymorphisms for Forensic Application

• Published in: Journal of forensic sciences Vol. 50; no. 3; pp. 1 - 7
• Main Authors: Alessandrini, F, Turchi, C, Onofri, V, Buscemi, L, Pesaresi, M, Tagliabracci, A
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01-05-2005
• Subjects: Africa; African Continental Ancestry Group; Asia; Asian Continental Ancestry Group - genetics; Chromosomes, Human, Y; DNA - analysis; DNA Primers; Europe; European Continental Ancestry Group - genetics; Forensic Pathology; Forensic sciences; Geography; Humans; Male; Polymerase Chain Reaction - methods; Polymorphism; Polymorphism, Single Nucleotide; South America; South America; Asia; Europe; Africa; forensic science; geographical affiliation; minisequencing; multiplex-polymerase chain reaction; Y single nucleotide polymorphism
• ISSN: 0022-1198; 1556-4029
• DOI: 10.1520/JFS2004147

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.