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 include primer extension with fluorescence detection and allele-specific hybridization using flow cytometry. In this work, we examined 50 different SNPs on the Y chromosome using 3 primer extension multiplexes and 5 hybridization multiplex assays. For certain loci, the allele-specific hybridization method had a significant background from the non-called allele. However, 100% concordance in allele calls (>2,000) was observed in 10 markers that were typed using both methods. Only 18 different haplogroups out of a possible 45 were seen in 229 males tested from U.S. Caucasian and African American populations with a high degree of specificity for several of the Y SNP markers in the two populations examined.
Citation: Journal of Forensic Sciences
Pub Type: Journals
hybridization, luminex, PCR, prime extension, SNP, y chromosome