Haplotypes and Mutation Analysis of 22 Y-chromosomal STRs in Korean Father-Son Pairs

Int J Legal Med. 2007 Mar;121(2):128-35. doi: 10.1007/s00414-006-0130-x. Epub 2006 Nov 15.

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)).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Chromosomes, Human, Y / genetics*
  • DNA Mutational Analysis
  • Fathers
  • Genetic Variation
  • Haplotypes / genetics*
  • Humans
  • Korea
  • Male
  • Microsatellite Repeats / genetics*
  • Mutation / genetics*
  • Paternity*
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results