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Research Article
Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
  1. M A Pericak-Vance,
  2. K J Nunes,
  3. E Whisenant,
  4. D B Loeb,
  5. K W Small,
  6. J M Stajich,
  7. J B Rimmler,
  8. L H Yamaoka,
  9. D I Smith,
  10. H A Drabkin
  1. Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710.

    Abstract

    A genetic map of highly polymorphic microsatellite markers spanning the von Hippel-Lindau region (VHL) of 3p25 was constructed using the CEPH reference pedigrees. A greater than 1000:1 odds map of pter-D3S1038-RAF1-D3S651-D3S656-D3S110- D3S1255-cen was found. Genotyping of six multigenerational VHL families showed the region surrounding the D3S1038 marker to be the most likely location for the VHL gene with a peak location score of 10.04 with VHL completely linked to D3S1038. These data provide an initial high resolution genetic map of this region; D3S1038 appears to be a highly polymorphic marker that should prove useful in the future for presymptomatic diagnosis.

    https://doi.org/10.1136/jmg.30.6.487

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