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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Pericak-Vance, MA; Nunes, KJ; Whisenant, E; Loeb, DB; Small, KW; Stajich, JM; Rimmler, JB; Yamaoka, LH; Smith, DI; Drabkin, HA

Published Date

  • June 1993

Published In

Volume / Issue

  • 30 / 6

Start / End Page

  • 487 - 491

PubMed ID

  • 8100855

Pubmed Central ID

  • PMC1016422

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.30.6.487


  • eng

Conference Location

  • England