title: Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
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.
authors.affiliation: Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: K J
authors.initials: KJ
authors.lastname: Nunes
authors.forename: E
authors.initials: E
authors.lastname: Whisenant
authors.forename: D B
authors.initials: DB
authors.lastname: Loeb
authors.forename: K W
authors.initials: KW
authors.lastname: Small
authors.forename: J M
authors.initials: JM
authors.lastname: Stajich
authors.forename: J B
authors.initials: JB
authors.lastname: Rimmler
authors.forename: L H
authors.initials: LH
authors.lastname: Yamaoka
authors.forename: D I
authors.initials: DI
authors.lastname: Smith
authors.forename: H A
authors.initials: HA
authors.lastname: Drabkin
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D016384:Consensus Sequence; D004276:DNA, Satellite / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers