YChromosomeDNAVariationMonitoredbySNPandSTR.pptVIP

Y Chromosome DNA Variation Monitored by SNP and STR Analysis John M. Butler NIST Biotechnology Division CHI 4th Annual DNA Forensics Meeting June 1-2, 2000 (Springfield, VA) Presentation Outline Advantages of Y Chromosome Markers Y Chromosome Structure and Variation Commonly Used Y Chromosome Markers Y STR Multiplex Assays Population Studies Y SNP Markers Y Chromosome Work at NIST Why the Y Chromosome? Applications forensic investigations (98% of violent crime by men) genealogical purposes evolutionary studies Advantages to Human Identity Testing male component isolated without differential extraction paternal lineages Needs population studies to evaluate diversity of haplotypes robust assay for accurate characterization of Y markers Y Chromosome DNA Markers STRs (microsatellites) DYS19, DYS385, etc. mostly tetranucleotide repeats Bi-allelic markers (unique event polymorphisms--UEP) SNPs (single nucleotide polymorphisms) Y Alu polymorphism (YAP) or other insertions/deletions (“indels”) Minisatellite MSY1 (DYF155S1) composed of 48-114 copies of a 25 bp repeat unit with 5 sequence variant repeat types typed by MVR-PCR (minisatellite variant repeat) Current Forensic STR Multiplexes Current Forensic STR Multiplexes Y STR Multiplex Assay Y STR Multiplex Assay Y STR Multiplex Assay Y STR Multiplex Assay Y STR Multiplex Assay Primer Sequences Y STR Multiplex Assay Y STR Multiplex Assay Y STR Multiplex Assay “State of the Y STR Assay” A number of multiplex reactions have been reported in the literature but Y STR multiplexes have not reached their potential… Very little PCR optimization to-date (most work has been done with the original PCR primer sequences) No commercial Y STR kit exists yet (therefore these markers remain inaccessible to the general forensic DNA community) New Y STR markers are becoming available which will greatly improve the power of discrimination between unrelated individuals (e.g., DYS385) and these will need to be incorporated into future multiplex