A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs

Forensic Sci Int. 2005 Dec 1;155(1):65-70. doi: 10.1016/j.forsciint.2004.12.012. Epub 2005 Jan 26.


Previously reported Y chromosome STR haplotype databases for three UK population groups, plus additionally analysed samples, have been scrutinised for the presence of non-standard (intermediate, null and duplicated) alleles. These alleles have been characterised by sequencing, some showing changes in the repeat structure, and the frequencies reported. Mutation rates for each of the 13 STRs have been calculated when analysis of father-son pairs has been possible. An example illustrating the use of non-standard alleles in a large family tree is outlined.

MeSH terms

  • Chromosomes, Human, Y*
  • DNA Fingerprinting*
  • Gene Frequency
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Mutation*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Tandem Repeat Sequences*