title: Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
abstract: Gerstmann-Sträussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (theta) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at theta = 0.0. No evidence for linkage heterogeneity was found in the combined data set.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: D
authors.initials: D
authors.lastname: Goldgaber
authors.forename: L G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D002890:Chromosomes, Human, Pair 20; D008040:Genetic Linkage; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D018620:PrPSc Proteins; D014764:Viral Proteins / Q000235:genetics*
chemical_list: D018620:PrPSc Proteins; D014764:Viral Proteins