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Article

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

BMC medical genetics - 26 Dec 2009

Bishop Matthew T, Pennington Catherine, Heath Craig A, Will Robert G, Knight Richard S G

Abstract excerpt

BACKGROUND: Genetic analysis of the human prion protein gene (PRNP) in suspect cases of Creutzfeldt-Jakob disease (CJD) is necessary for accurate diagnosis and case classification. Previous publications on the genetic variation at the PRNP locus have highlighted the presence of numerous polymorphisms, in addition to the well recognised one at codon 129, with significant variability between geographically distinct...

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Identifiers

PMID: 20035629
DOI: 10.1186/1471-2350-10-146
PMCID: PMC2806268

Genes

PRNP

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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.PMID 20035629Read ↗

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.Semantic proximity Read ↗

A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Significant association of a M129V independent polymorphism in the 5′ UTR of the <i>PRNP</i> gene with sporadic Creutzfeldt-Jakob disease in a large German case-control studySemantic proximity Read ↗

Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.Semantic proximity Read ↗

The influence of PRNP polymorphisms on human prion disease susceptibility: an update.Semantic proximity Read ↗

The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population.Semantic proximity Read ↗

Genetic risk factors associated with Creutzfeld-Jakob disease in Slovenians and a rapid typing for PRNP codon 129 single nucleotide polymorphism.Semantic proximity Read ↗

Analysis of PRNP gene codon 129 polymorphism in the Greek population.Semantic proximity Read ↗

Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.Semantic proximity Read ↗

Polymorphism of PRNP codons in the normal Icelandic population.Semantic proximity Read ↗

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.Semantic proximity Read ↗

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