2.50
Hdl Handle:
http://hdl.handle.net/2336/15735
Title:
Polymorphism of PRNP codons in the normal Icelandic population.
Authors:
Georgsson, G; Tryggvason, T; Jonasdottir, A D; Gudmundsson, S; Thorgeirsdottir, S
Citation:
Acta Neurol. Scand. 2006, 113(6):419-25
Issue Date:
1-Jun-2006
Abstract:
OBJECTIVES: Polymorphisms in the prion protein gene in humans influence susceptibility to, and phenotype of, prion diseases. Methionine-methionine (MM) homozygosity at codon 129 is a risk factor for sporadic Creutzfeldt-Jakob disease (CJD). Polymorphism at codon 117 and changes in the octapeptide repeat region have been associated with genetic CJD. Knowledge of genetic background in normal populations may contribute to better understanding of prion diseases. MATERIALS AND METHODS: Polymorphism at codon 129, codon 117 and deletions of octapetide repeats were studied in 208 healthy blood donors of both genders and of different age. RESULTS: Polymorphism at codon 129 was: MM 46.6%, methionine-valine 44.7%, valine-valine 8.7%. Polymorphism at codon 117 was observed in 4.8%. Deletions of octapeptide repeats were not detected. There were no gender or age differences in the distribution of codon 129 polymorphism. The frequency of codon 129 polymorphisms was, with one exception, not significantly different from that observed elsewhere in Europe.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.blackwell-synergy.com/doi/abs/10.1111/j.1600-0404.2006.00632.x

Full metadata record

DC FieldValue Language
dc.contributor.authorGeorgsson, G-
dc.contributor.authorTryggvason, T-
dc.contributor.authorJonasdottir, A D-
dc.contributor.authorGudmundsson, S-
dc.contributor.authorThorgeirsdottir, S-
dc.date.accessioned2008-01-07T11:14:43Z-
dc.date.available2008-01-07T11:14:43Z-
dc.date.issued2006-06-01-
dc.date.submitted2007-01-07-
dc.identifier.citationActa Neurol. Scand. 2006, 113(6):419-25en
dc.identifier.issn0001-6314-
dc.identifier.pmid16674609-
dc.identifier.doi10.1111/j.1600-0404.2006.00632.x-
dc.identifier.urihttp://hdl.handle.net/2336/15735-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractOBJECTIVES: Polymorphisms in the prion protein gene in humans influence susceptibility to, and phenotype of, prion diseases. Methionine-methionine (MM) homozygosity at codon 129 is a risk factor for sporadic Creutzfeldt-Jakob disease (CJD). Polymorphism at codon 117 and changes in the octapeptide repeat region have been associated with genetic CJD. Knowledge of genetic background in normal populations may contribute to better understanding of prion diseases. MATERIALS AND METHODS: Polymorphism at codon 129, codon 117 and deletions of octapetide repeats were studied in 208 healthy blood donors of both genders and of different age. RESULTS: Polymorphism at codon 129 was: MM 46.6%, methionine-valine 44.7%, valine-valine 8.7%. Polymorphism at codon 117 was observed in 4.8%. Deletions of octapeptide repeats were not detected. There were no gender or age differences in the distribution of codon 129 polymorphism. The frequency of codon 129 polymorphisms was, with one exception, not significantly different from that observed elsewhere in Europe.en
dc.language.isoenen
dc.publisherMunksgaarden
dc.relation.urlhttp://www.blackwell-synergy.com/doi/abs/10.1111/j.1600-0404.2006.00632.xen
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAge Distributionen
dc.subject.meshAgeden
dc.subject.meshAmino Acid Sequenceen
dc.subject.meshAmino Acid Substitutionen
dc.subject.meshAmyloiden
dc.subject.meshCodonen
dc.subject.meshCreutzfeldt-Jakob Syndromeen
dc.subject.meshDNA Mutational Analysisen
dc.subject.meshFemaleen
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshGenetic Screeningen
dc.subject.meshIcelanden
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshPoint Mutationen
dc.subject.meshPolymorphism, Geneticen
dc.subject.meshPrionsen
dc.subject.meshProtein Precursorsen
dc.subject.meshSex Distributionen
dc.titlePolymorphism of PRNP codons in the normal Icelandic population.en
dc.typeArticleen
dc.contributor.departmentInstitute for Experimental Pathology, University of Iceland, Reykjavik, Iceland. ggeorgs@hi.isen

Related articles on PubMed

All Items in Hirsla are protected by copyright, with all rights reserved, unless otherwise indicated.