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Titolo:
Discrepancies between apolipoprotein E phenotyping and genotyping in the elderly
Autore:
Dupuy, AM; Badiou, S; Ritchie, K; Mas, E; Descomps, B; Cristol, JP; Touchon, J;
Indirizzi:
Hosp Lapeyronie, Dept Biochem, F-34295 Montpellier 5, France Hosp Lapeyronie Montpellier France 5 chem, F-34295 Montpellier 5, France INSERM, Montpellier, France INSERM Montpellier FranceINSERM, Montpellier, France Gui de Chauliac Hosp, Dept Neurol, Montpellier, France Gui de Chauliac Hosp Montpellier France ept Neurol, Montpellier, France
Titolo Testata:
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
fascicolo: 5, volume: 39, anno: 2001,
pagine: 405 - 413
SICI:
1434-6621(200105)39:5<405:DBAEPA>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE CHAIN-REACTION; DEVELOPING ALZHEIMERS-DISEASE; DEPENDENT DIABETES-MELLITUS; E POLYMORPHISM; APOE GENE; OLIGONUCLEOTIDE PROBES; MYOCARDIAL-INFARCTION; LIPID-PEROXIDATION; ALLELE EPSILON-4; EXPANDING ROLE;
Keywords:
apolipoprotein E : phenotyping; apolipoprotein E : genotyping; isoelectric focusing; PCR;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
74
Recensione:
Indirizzi per estratti:
Indirizzo: Cristol, JP Hosp Lapeyronie, Dept Biochem, 191 Ave Doyen Gaston Giraud, F-34295 Montpellier 5, France Hosp Lapeyronie 191 Ave Doyen Gaston Giraud Montpellier France 5
Citazione:
A.M. Dupuy et al., "Discrepancies between apolipoprotein E phenotyping and genotyping in the elderly", CLIN CH L M, 39(5), 2001, pp. 405-413

Abstract

We estimated the frequencies of phenotype (isoelectric focusing; IEF) vs, genotype (PCR/Hhal) discordance in a sample of an aged population (> 65 years). Both phenotype and genotype techniques have been used in the study of apolipoprotein E (apoE) polymorphism in 125 elderly subjects. The discordance between phenotype and genotype was unresolved in 11 (8.8%)of the 125 unrelated subjects studied. We observed a significant association between the presence of the E4 allele and both Alzheimer's disease (chi (2) = 13, p<0.001) and increased cholesterol concentration (Mann Whitney, p<0.03). These relationships were not affected by the techniques used. Our results indicate that transcriptional modulation and post-transductional modifications in normal ageing and in aged-related diseases may explain in part discrepancies between gene analysis and protein characterisation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 17:11:25