Human Molecular Genetics, Vol 6, 799-803, Copyright © 1997 by Oxford University Press
E Heyer, J Puymirat, P Dieltjes, E Bakker and P de Knijff
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.
ARTICLES
Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees
Laboratoire D'Athropologie Biologique CNRS UMR152, Musee de L'Homme, Paris, France.
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