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Titolo:
NEW METHODS FOR RAPID DETECTION OF LOW-DENSITY-LIPOPROTEIN RECEPTOR AND APOLIPOPROTEIN-B GENE-MUTATIONS CAUSING FAMILIAL HYPERCHOLESTEROLEMIA
Autore:
MINNICH A; ROY M; CHAMBERLAND A; LAVIGNE J; DAVIGNON J;
Indirizzi:
CLIN RES INST MONTREAL,DEPT HYPERLIPIDEMIA & ATHEROSCLEROSIS,110 PINEAVE W MONTREAL PQ H2W 1R7 CANADA
Titolo Testata:
Clinical biochemistry
fascicolo: 3, volume: 28, anno: 1995,
pagine: 277 - 284
SICI:
0009-9120(1995)28:3<277:NMFRDO>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE CHAIN-REACTION; FRENCH-CANADIANS; DEFECTIVE APOLIPOPROTEIN-B-100; DNA; LOCUS; IDENTIFICATION; AMPLIFICATION; CHOLESTEROL; EXPRESSION; DELETION;
Keywords:
LOW-DENSITY LIPOPROTEIN (LDL) RECEPTORS; GENE DELETION; FAMILIAL HYPERCHOLESTEROLEMIA (FH); POLYMERASE CHAIN REACTION; APOLIPOPROTEIN B; DNA MUTATIONAL ANALYSIS; POINT MUTATION; MOLECULAR EPIDEMIOLOGY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
A. Minnich et al., "NEW METHODS FOR RAPID DETECTION OF LOW-DENSITY-LIPOPROTEIN RECEPTOR AND APOLIPOPROTEIN-B GENE-MUTATIONS CAUSING FAMILIAL HYPERCHOLESTEROLEMIA", Clinical biochemistry, 28(3), 1995, pp. 277-284

Abstract

Due to a genetic founder effect, five mutations in the low-density lipoprotein receptor gene account for approximately 83% of familial hypercholesterolemia (FH) diagnosed in French-Canadians. The most frequentmutation, present in 61% of heterozygotes, is a >10 kb deletion of the 5' region of the gene that removes the promoter and the first exon, resulting in a null allele. Other less prevalent mutations include a gene deletion of approximately 5 kb, which removes exons 2 and 3 (2% ofcases) and three missense mutations: Trp(66) --> Gly (exon 3) (12%), Glu(207) --> Lys (exon 4) (3%), and Cys(646) --> Tyr (exon 14) (6%). The apoB Arg(3500) --> Gln mutation was absent in 228 French-Canadians with the FH phenotype. Taking advantage of the availability of fluorescent DNA detection, we have substantially improved the assays for these mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 18:39:15