ISSN: 0022-1198
CODEN: JFSCA
Published Online: 5 May 2004
Page Count: 10

Y-SNP Typing of U.S. African American and Caucasian Samples Using Allele-Specific Hybridization and Primer Extension
Butler, JM
Biotechnology Division, National Institute of Standards and Technology, MD

Vallone, PM
Biotechnology Division, National Institute of Standards and Technology, MD

(Received 6 September 2003; accepted 6 March 2004)

Abstract

Multiplex analysis of genetic markers has become increasingly important in a number of fields, including DNA diagnostics and human identity testing. Two methods for examination of single nucleotide polymorphisms (SNPs) with a potential for a high degree of multiplex analysis of markers are primer extension with fluorescence detection, and allele-specific hybridization using flow cytometry. In this paper, we examined 50 different SNPs on the Y-chromosome using three primer extension multiplexes and five hybridization multiplex assays. For certain loci, the allele-specific hybridization method exhibited sizable background signal from the absent alternate allele. However, 100% concordance (>2000 alleles) was observed in ten markers that were typed using both methods. A total of 18 unique haplogroups out of a possible 45 were observed in a group of 229 U.S. African American and Caucasian males with the majority of samples being assigned into 2 of the 18 haplogroups.

Keywords:
forensic science, Y-chromosome, single nucleotide polymorphism, SNP typing, Y-SNPs, SNaPshot, primer extension, Luminex, allele-specific hybridization

Paper ID: JFS2003303
DOI: 10.1520/JFS2003303
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