Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter

Genomics. 1991 Feb;9(2):366-8. doi: 10.1016/0888-7543(91)90266-h.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 20*
  • Genetic Linkage*
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Humans
  • Lod Score
  • PrPSc Proteins
  • Viral Proteins / genetics*

Substances

  • PrPSc Proteins
  • Viral Proteins