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Titolo:
COMPARISON OF THE GENETIC-DEFECT WITH LDL-RECEPTOR ACTIVITY IN CULTURED-CELLS FROM PATIENTS WITH A CLINICAL-DIAGNOSIS OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Autore:
SUN XM; PATEL DD; KNIGHT BL; SOUTAR AK;
Indirizzi:
HAMMERSMITH HOSP,MRC,LIPOPROT TEAM,CTR CLIN SCI,ROYAL POSTGRAD MED SCH,DU CANE RD LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,MRC,LIPOPROT TEAM,CTR CLIN SCI,ROYAL POSTGRAD MED SCH LONDON W12 0NN ENGLAND
Titolo Testata:
Arteriosclerosis, thrombosis, and vascular biology
fascicolo: 11, volume: 17, anno: 1997,
pagine: 3092 - 3101
SICI:
1079-5642(1997)17:11<3092:COTGWL>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
DENSITY-LIPOPROTEIN-RECEPTOR; (LDL)-RECEPTOR GENE; APOLIPOPROTEIN-B; UNITED-KINGDOM; MESSENGER-RNA; MUTATIONS; IDENTIFICATION; FH; CHOLESTEROL; PHENOTYPE;
Keywords:
MUTATION; NUCLEOTIDE SEQUENCING; FAMILIAL DEFECTIVE APO-B; IMMUNOBLOTTING; LDL-RECEPTOR ACTIVITY;
Tipo documento:
Article
Natura:
Periodico
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
X.M. Sun et al., "COMPARISON OF THE GENETIC-DEFECT WITH LDL-RECEPTOR ACTIVITY IN CULTURED-CELLS FROM PATIENTS WITH A CLINICAL-DIAGNOSIS OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA", Arteriosclerosis, thrombosis, and vascular biology, 17(11), 1997, pp. 3092-3101

Abstract

In this study we have analyzed the genetic defect in 42 patients witha diagnosis of heterozygous familial hypercholesterolemia (FH) by Southern blotting, SSCP, and sequencing of PCR-amplified fragments of genomic DNA or sequencing of RT-PCR products from mRNA in cultured cells. The apoB Arg3500Gln mutation was identified in five patients. A molecular defect in the LDL-receptor gene was confirmed in 23 patients; 16 of these mutations have not been described before. No defect in the coding region, intron:exon junctions or proximal promoter of the LDL-receptor gene or in the region of the apoB gene coding for the LDL-receptor binding domain was found in the remaining 14 patients. LDL-receptoractivity and protein content of cultured lymphoblasts from the patients was significantly lower in cells from patients with severe rather than mild LDL-receptor mutations. Cells from four patients with no detectable defect showed reduced LDL receptor activity compared with eightnormal cell lines, whereas six others had reduced LDL-receptor activity but LDL-receptor protein content within the normal range. Cells from four patients appeared to have normal LDL-receptor function, Cells from two patients with a defined defect also had LDL-receptor activity within the normal range. The findings demonstrate the problems involved in the genetic diagnosis of FH in patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 13:09:57