Haplotypes and mutations of 17 Y-STR loci from Korean father-son pairs.

Korean J Leg Med. 2005 Oct;29(2):163-180. Korean.

Department of Forensic Medicine, National Institute of Scientific Investigation.

Department of Forensic Medicine, College of Medicine, Yonsei University. hylee192@yumc.yonsei.ac.kr

Brain Korea 21 Project for Medical Science, Yonsei University. Human Identification Research Institute, Yonsei University.

We have investigated 17 Y-STR loci (DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (Y GATA C4), Y GATA H4) in 365 Korean father-son pairs of 355 families. Of 338 different haplotypes obtained from 355 fathers, 326 haplotypes were observed once, 10 haplotypes two times and the other two haplotypes were observed 4 and 5 times, respectively. The overall haplotype diversity was 0.9996. In 365 father-son pairs, a total of 21 mutations were observed at 12 Y-STR loci. Sequence analysis for mutant alleles demonstrated 21 single step mutations: 8 gains and 13 losses. However, there was no significant surplus of gains or losses. The locus-specific mutation rate estimates were between 0.0 and 8.2 x 10(-3) and the average mutation rate estimates were 3.4 x 10(-3)(95% C.I. 2.1-5.2 x 10(-3)) across all 17 Y-STR loci.

Key Words : Y-STR, Haplotype, Mutation, Korean