Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
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.
Speer
M C
MC
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Goldgaber
D
D
Goldfarb
L G
LG
Roses
A D
AD
Pericak-Vance
M A
MA
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*
D018620:PrPSc Proteins; D014764:Viral Proteins