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Publication Citation: Multiplexed Assays for Evaluation of Y-SNP Markers in U.S. Populations

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Author(s): Peter M. Vallone; John M. Butler;
Title: Multiplexed Assays for Evaluation of Y-SNP Markers in U.S. Populations
Published: April 01, 2004
Abstract: Genetic markers located on the Y chromosome are of increasing importance in human identity testing. In an effort to evaluate the forensic utility of Y chromosome single nucleotide polymorphism (SNP) markers, we constructed several novel multiplex allele-specific primer extension (ASPE) assays and utilized a new commercial allele-specific hybridization (ASH) multiplex kit to examine 50 Y-SNP markers in 229 males from two U.S. Caucasian and African American populations. The novel ASPE assays covered 18 Y-SNP markers in 3 multiplex reactions while a commercial ASH kit was used to type 42 Y-SNPs plus amelogenin for sex-typing purposes. There were 10 overlapping loci between the ASPE and ASH methods permitting an evaluation of concordance on over 2,000 allele calls. The 50 Y-SNP markers examined in this study define 45 of the 159 possible Y Chromosome Consortium (YCC) haplogroups. Only 18 different haplogroups were observed in our samples.
Conference: 20th International Congress of the International-Society-for-Forensic-Genetics
Proceedings: International Congress Series; Progress in Forensic Genetics 10
Volume: 1261
Pages: pp. 85 - 87
Location: Arcachon,
Dates: September 9-13, 2003
Keywords: allele-specific hybridization,forensic science,primer extension,single nucleotide polymorphism,SNP typing,Y chromosome,Y-SNPs
Research Areas: Gene Therapy, Genetic Surveillance, DNA, Bioscience & Health