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Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease

Mead, S; Beck, J; Dickinson, A; Fisher, EMC; Collinge, J; (2000) Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease. NEUROSCI LETT , 290 (2) 117 - 120.

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Abstract

A novel human gene named Doppel (DPL) that has homology to the prion protein gene (PRNP) has recently been identified on chromosome 20p. By automated sequencing we have found a common (M174T, 48%) and an uncommon coding polymorphism. The polymorphic frequency of the M174T allele was examined in cases of variant and sporadic Creutzfeldt-Jakob Disease and compared with the frequency in the normal UK population. In sharp distinction to the M129V polymorphism of PRNP we have not found any evidence of disease association nor is there any association with age of onset, disease duration, or prion protein (PrPSc) strain type. (C) 2000 Elsevier Science Ireland Ltd. AII rights reserved.

Type: Article
Title: Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease
Keywords: prion, Creutzfeldt-Jakob disease, Doppel, association study, MICE, PRP, ATAXIA, CJD, BSE
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/145892
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