Forensic Science Review
Recent Developments in Y-Short Tandem Repeat and Y-
Single Nucleotide Polymorphism Analysis
Butler JM: Recent developments in Y-single tandem repeat and Y-single nucleotide polymorphism
analysis; Forensic Sci Rev 15:91; 2003.
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-chromosome STRs (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
discussed, as are newly available commercial Y-STR kits. Approximately 250 SNP markers are now catalogued
along the Y-chromosome (Y-SNPs) with a unified haplogroup nomenclature describing their relative relationships.
Technologies for typing these Y-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.
Forensic DNA typing, Luminex, multiplex PCR, SNaPshot, standard reference materials, STR
nomenclature issues, Y-Chromosome, Y-SNP, Y-STR.
forensic analysis of sexual assault evidence [6,16,18,36,37,
45,66,67,68,73,85,87,88], conducting missing persons
investigations , performing deficient paternity testing
[45,76,80], addressing historical questions , and
supplementing genealogical research [48,89] (