NR ALBP
AU Speer,M.C.; Goldgaber,D.; Goldfarb,L.G.; Roses,A.D.; Pericak-Vance,M.A.
TI Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter
QU Genomics 1991 Feb; 9(2): 366-8
PT journal article
AB 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.
MH *Chromosomes, Human, Pair 20; Gerstmann-Sträussler-Scheinker Disease/*genetics; Human; *Linkage (Genetics); Lod Score; PrPsc Proteins; Support, U.S. Gov't, P.H.S.; Viral Proteins/*genetics
AD Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
SP englisch
PO USA