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This article reviews new genetic markers on the Y chromosome and methods for analyzing these short tandem repeat (STR) and single nucleotide polymorphism (SNP) loci. Relative chromosomal locations for over 50 Y STRs are described along with their repeat motif and allele range characteristics based on published population studies. Multiplex assays for typing many of these markers in a parallel fashion are mentioned, as are newly available commercial Y STR kits. Approximately 250 SNP markers are now cataloged along the Y chromosome with a unified haplogroup nomenclature describing the markers relative relationships. Technologies for typing these SNPs are reviewed including primer extension and allele-specific hybridization methods. Finally, available reference materials for standardization of allele calls, Y STR allele nomenclature issues, and published validation and interlaboratory studies are reviewed.
Citation
Forensic Science International
Pub Type
Journals
Keywords
forensic DNA typing, Luminex, multiplex PCR, SNaPshot, standard reference materials, STR nomenclature issues, Y chromosome, Y SNP, Y STR
Citation
Butler, J.
(2008),
Recent Developments in Y STR and Y SNP Analysis, Forensic Science International
(Accessed October 8, 2025)