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Korean Journal of Legal Medicine 2005;29(2):163-180.
Published online October 31, 2005.
Haplotypes and mutations of 17 Y-STR loci from Korean father-son pairs.
Han Young Lee, Ukhee Chung, Myung Jin Park, Ji Eun Yoo, Hwan Young Lee, Kyoung Jin Shin, Sang Ho Cho, Woo Ick Yang
1Department of Forensic Medicine, National Institute of Scientific Investigation.
2Department of Forensic Medicine, College of Medicine, Yonsei University. hylee192@ yumc.yonsei.ac.kr
3Brain Korea 21 Project for Medical Science, Yonsei University.
4Human 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
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