Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26

J Med Genet. 1993 Jun;30(6):487-91. doi: 10.1136/jmg.30.6.487.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Consensus Sequence
  • DNA, Satellite / analysis
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid
  • von Hippel-Lindau Disease / genetics*


  • DNA, Satellite
  • Genetic Markers