title: Confirmation of linkage in von Hippel-Lindau disease.
abstract: 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.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: J M
authors.initials: JM
authors.lastname: Vance
authors.forename: K W
authors.initials: KW
authors.lastname: Small
authors.forename: M A
authors.initials: MA
authors.lastname: Jones
authors.forename: J M
authors.initials: JM
authors.lastname: Stajich
authors.forename: L H
authors.initials: LH
authors.lastname: Yamaoka
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000798:Angiomatosis / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D015342:DNA Probes; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers