Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees

Hum Mol Genet. 1997 May;6(5):799-803. doi: 10.1093/hmg/6.5.799.


Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleotide repeat loci to screen 42 males who are descendants from 12 'founding fathers' by a total number of 213 generations. As a result, we were able to estimate an average chromosome Y tetranucleotide mutation frequency of 0.20% (95% CIL 0.05-0.55). This closely matches the often cited Weber and Wong estimate of 0.21% for a set of autosomal tetranucleotide repeats. Expanding the set of microsatellites with two more loci (a tri- and a penta-nucleotide repeat locus) an average chromosome Y microsatellite mutation frequency of 0.21% (95% CIL 0.06-0.49) was found. These estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes. This supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.

MeSH terms

  • Gene Frequency
  • Genetics, Population*
  • Humans
  • Male
  • Microsatellite Repeats*
  • Models, Genetic
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic
  • Quebec
  • Y Chromosome*