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Related Experiment Videos

Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees

E Heyer1, J Puymirat, P Dieltjes

  • 1Laboratoire D'Athropologie Biologique CNRS UMR152, Musee de L'Homme, Paris, France.

Human Molecular Genetics
|May 1, 1997
PubMed
Summary

Y chromosome microsatellite mutation rates are now estimated, proving crucial for forensic and population genetics. These findings reveal Y chromosome microsatellite mutation frequencies comparable to autosomal loci.

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Area of Science:

  • Genetics
  • Forensic Science
  • Population Genetics

Background:

  • Highly polymorphic chromosome Y specific microsatellites are valuable for genetic studies.
  • A lack of mutation frequency estimates for these loci hinders reliable application.

Purpose of the Study:

  • To estimate the mutation frequency of chromosome Y microsatellites.
  • To compare Y chromosome microsatellite mutation rates with autosomal loci.

Main Methods:

  • Screening of seven chromosome Y tetranucleotide repeat loci in 42 males from 12 founding fathers over 213 generations.
  • Expansion of microsatellite set to include tri- and penta-nucleotide repeat loci.

Main Results:

  • An average chromosome Y tetranucleotide mutation frequency of 0.20% was estimated.

Related Experiment Videos

  • An average chromosome Y microsatellite mutation frequency of 0.21% was determined when including additional loci.
  • Y chromosome microsatellite mutation frequencies were found to be comparable to autosomal loci.

    • Conclusions:

    • Mutation frequencies of Y chromosome microsatellites are similar to those on autosomes.
    • Slippage-generated growth is supported as the primary driver of microsatellite variability.