title: Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs.
abstract: We analyzed 369 Korean father/son haplotype transfers in 355 families at 22 Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS437, DYS438, DYS439, DYS446, DYS447, DYS448, DYS449, DYS456, DYS458, DYS464, DYS635, and GATA H4.1). A total of 350 haplotypes were observed with an overall haplotype diversity of 0.9999. Among these, 345 were unique and five were found twice. Furthermore, 36 mutations were identified, giving locus-specific mutation rate estimates between 0.0 and 19.0 x 10(-3) per generation and an average mutation rate estimate of 3.9 x 10(-3) (95% CI 2.7-5.4 x 10(-3)). The compilation of Y-STR mutation events for the present study and previous studies demonstrates that DYS449, DYS458, DYS635, DYS456 and DYS439 are the most prone to mutations and that their overall average mutation rate estimate is 2.36 x 10(-3) (95% CI 2.03-2.73 x 10(-33)).
authors.affiliation: Department of Forensic Medicine and BK21 Project for Medical Science, Yonsei University College of Medicine, 134 Sinchon-Dong, Seodaemun-Gu, Seoul, 120-752, South Korea.
authors.forename: Hwan Young
authors.initials: HY
authors.lastname: Lee
authors.forename: Myung Jin
authors.initials: MJ
authors.lastname: Park
authors.forename: Ukhee
authors.initials: U
authors.lastname: Chung
authors.forename: Han Young
authors.initials: HY
authors.lastname: Lee
authors.forename: Woo Ick
authors.initials: WI
authors.lastname: Yang
authors.forename: Sang-Ho
authors.initials: SH
authors.lastname: Cho
authors.forename: Kyoung-Jin
authors.initials: KJ
authors.lastname: Shin
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004252:DNA Mutational Analysis; D005220:Fathers; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010334:Paternity; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results