Since research in Y-chromosome markers, assays, and applications has had tremendous growth in the past several years, this article reviews recent efforts in Y-chromosome short tandem repeat (Y-STR) and single nucleotide polymorphism (Y-SNP) analysis.
A review of Y-STR markers addresses marker discovery, chromosomal locations of markers, characteristics of new markers, population studies, and genetic genealogy studies. A section on Y-STR typing assays and kits discusses approaches to reliable genotyping, multiplex PCR, the National Institute of Standard and Technology Multiplex Assays, and commercial kits. A review of Y-SNP markers and typing assays considers available markers, unified nomenclature for Y-SNP haplogroups, typing technologies, SNaPshot assay, luminex assay, and optimal Y-SNP markers. The review concludes that male-specific amplification and its use in the analysis of sexual assault DNA evidence as well as missing persons and paternity investigations will likely have an important role in the future of forensic DNA typing. Commercially available kits now enable the forensic practitioner to easily perform Y-STR typing. Validation and inter-laboratory studies have demonstrated that Y-STR typing is reliable. With more than 200 Y-STRs and 250 Y-SNPs now available, much remains to be done to understand the value of these new markers compared to the ones currently widely used. A table lists some Internet resources for more information on Y-chromosome research, population data, and applications of the techniques described in this article. 9 tables and 102 references