Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC
Autore:
Le Gac, G; Mura, C; Ferec, C;
Indirizzi:
EFS Bretagne, F-29200 Brest, France EFS Bretagne Brest France F-29200EFS Bretagne, F-29200 Brest, France Univ Bretagne Occidentale, F-29200 Brest, France Univ Bretagne Occidentale Brest France F-29200 le, F-29200 Brest, France INSERM, Genet Mol Lab, EMI01 15, F-29200 Brest, France INSERM Brest France F-29200 net Mol Lab, EMI01 15, F-29200 Brest, France
Titolo Testata:
CLINICAL CHEMISTRY
fascicolo: 9, volume: 47, anno: 2001,
pagine: 1633 - 1640
SICI:
0009-9147(200109)47:9<1633:CSOTHH>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
PERFORMANCE LIQUID-CHROMATOGRAPHY; PORPHYRIA-CUTANEA-TARDA; MUTATION ANALYSIS; GEL-ELECTROPHORESIS; CANDIDATE GENE; HLA-H; POLYMORPHISMS; DHPLC; PCR; PHENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Le Gac, G EFS Bretagne, 46 Rue Felix Le Dantec, F-29200 Brest, France EFS Bretagne 46 Rue Felix Le Dantec Brest France F-29200 France
Citazione:
G. Le Gac et al., "Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC", CLIN CHEM, 47(9), 2001, pp. 1633-1640

Abstract

Background: Between 4% and 35% of hereditary hemochromatosis (HC) probandsare C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently. We evaluateddenaturing HPLC (DHPLC) for screening of the whole HFE coding region and further defined whether HC probands with an incomplete HFE genotype carry uncommon mutations. Methods: Analytical conditions for each coding exon were determined by a combination of computer melting profile predictions and experimental meltingcurves. To test accuracy for scanning the complete HFE coding region and optimize DHPLC running conditions, each melting domain was investigated withat least one mutation or one polymorphism as reference. We tested 100 DNA samples harboring the C282Y, H63D, or S65C mutations and 17 artificially created positive controls that carried either 1 of the 14 other known HFE mutations or 3 selected polymorphisms. Results: Investigations on each of the coding exons 1, 2, 4, 5, and 6 could be performed at one analysis temperature. Coding exon 3 displayed a more complex melting profile and required two analysis temperatures. DHPLC detected all known HFE mutations as well as the three selected polymorphisms. Conclusions: DHPLC can be used to scan the HFE gene in HC probands in whomat least one chromosome lacks an assigned mutation. (C) 2001 American Association for Clinical Chemistry.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 21:43:19