title: Population genetics and mutational events at 6 Y-STRs in Korean population.
abstract: Haplotype frequencies for 6 Y-STRs (DYS522, DYS533, DYS549, DYS570, DYS576 and DYS643) were determined in 539 unrelated Korean males. A total of 375 haplotypes were observed with the overall haplotype diversity of 0.9967. In DYS570, we found new point-3 microvariant allele series, i.e., 18.3, 19.3 and 20.3. DNA sequence analysis showed that the full repeat sequences were [TTTC](n)ttc[TTTC](5). Duplicated DYS643 allele was found and discussed on its forensic impact on the Y-STR interpretation of male-male mixtures. In 140 confirmed father/son pairs, one mutation was found in DYS576 with the overall mutation rate of 1.10x10(-3)/locus/generation (95% CI 0.31-1.89x10(-3)).
authors.affiliation: DNA Analysis Division, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea.
authors.forename: Soon Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Nam Ye
authors.initials: NY
authors.lastname: Kim
authors.forename: Kyung Sook
authors.initials: KS
authors.lastname: Kim
authors.forename: Jong Jin
authors.initials: JJ
authors.lastname: Kim
authors.forename: Jong Tae
authors.initials: JT
authors.lastname: Park
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.forename: Myun Soo
authors.initials: MS
authors.lastname: Han
authors.forename: Won
authors.initials: W
authors.lastname: Kim
mesh_terms: D000483:Alleles; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis; D005220:Fathers; D005554:Forensic Medicine; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D007723:Korea; D018895:Microsatellite Repeats; D009154:Mutation; D009679:Nuclear Family; D016133:Polymerase Chain Reaction; D011786:Quality Control; D017422:Sequence Analysis, DNA