Null and Duplicated Alleles of 17 Y-STR Haplotypes in Koreans and Considerations for Forensic Application / 대한법의학회지

The analysis of Y chromosome polymorphisms has become common place for the identification of male component in forensic cases. In male/female mixtures of many rape cases, Y-STRs are also very useful for the determination of contributors' number. During the analyses of 17 Y-STR haplotypes for forensic applications using the AmpFlSTR(R) Yfiler(TM) system, a number of null and duplicated alleles (40 out of 2144 subjects) were discovered. Interestingly, two haplotypes should focus the attention on forensic interpretation of Y-STR haplotype profiles, because multiple mutational events at various loci can be interpreted as a wrong mixed or allele drop-out profile.

Genetic characteristics of 22 Y-STR loci in Koreans / 대한법의학회지

To construct a Korean Y-chromosomal STR database for 22 Y-STRs (DYS19, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS446, DYS447, DYS448, DYS449, DYS456, DYS458, DYS464, DYS635, and GATA H4.1), 708 DNA samples from unrelated Korean males were analyzed using three multiplex PCR systems. During analysis, thirty two microvariant alleles were observed at DYS449, DYS458, and DYS464, and duplicated alleles were occurred once each for DYS19, DYS390, and DYS447. In haplotype analysis for the 22 Y-STRs, a total of 693 different haplotypes were observed with overall haplotype diversity of 0.9999, and of these, 680 haplotypes were unique. By combining each marker for the extended SWGDAM haplotype, DYS458 was the most informative marker. In addition, the diversity of combined haplotypes of DYS447, DYS458, DYS635, GATA H4.1, and the SWGDAM Y-STR loci was comparable to haplotypes of 17 loci in the AmpFlSTR(R) Yfiler(TM) kit.