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

Marcy C. Speer, Dmitry Goldgaber, Lev G. Goldfarb, Allen D. Roses, Margaret A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

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 (θ) 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 θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set.

Original languageEnglish (US)
Pages (from-to)366-368
Number of pages3
JournalGenomics
Volume9
Issue number2
DOIs
StatePublished - Feb 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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