Confirmation of linkage in von Hippel-Lindau disease.

Journal Article (Journal Article)

Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude to fine mapping studies. The probes used in the analysis were p627 (RAF1) and pHeA12 (thyroid hormone receptor B) (3p24.1-3p22). VHL was analyzed as an autosomal dominant trait with age-dependent penetrance. The maximum lod score combining both families was z(theta) = 2.16 at theta = 0.0 for RAF1 and z(theta) = 2.20 at theta = 0.05 for thyroid hormone receptor B. Multipoint analysis using the RAF1 and thyroid hormone receptor B loci resulted in a peak lod score of 3.1 confirming linkage of VHL to this region of chromosome 3. However, the position of VHL relative to the two loci could not be established with certainty.

Full Text

Duke Authors

Cited Authors

  • Vance, JM; Small, KW; Jones, MA; Stajich, JM; Yamaoka, LH; Roses, AD; Hung, WY; Pericak-Vance, MA

Published Date

  • March 1990

Published In

Volume / Issue

  • 6 / 3

Start / End Page

  • 565 - 567

PubMed ID

  • 2328994

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1016/0888-7543(90)90488-g


  • eng

Conference Location

  • United States