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Titolo:
DEVELOPMENT OF A MULTIPLEX ARMS TEST FOR MUTATIONS IN THE HFE GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS
Autore:
BATY D; KWIATKOWSKI AT; MECHAN D; HARRIS A; PIPPARD MJ; GOUDIE D;
Indirizzi:
UNIV DUNDEE,NINEWELLS HOSP & MED SCH,MOL GENET LAB DUNDEE DD1 9SY SCOTLAND UNIV DUNDEE,NINEWELLS HOSP & MED SCH,DEPT MOL & CELLULAR PATHOL DUNDEE DD1 9SY SCOTLAND
Titolo Testata:
Journal of Clinical Pathology
fascicolo: 1, volume: 51, anno: 1998,
pagine: 73 - 74
SICI:
0021-9746(1998)51:1<73:DOAMAT>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEMOCHROMATOSIS;
Keywords:
HEREDITARY HEMOCHROMATOSIS; C282Y MUTATION; H63D MUTATION; MULTIPLEX ARMS ANALYSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
D. Baty et al., "DEVELOPMENT OF A MULTIPLEX ARMS TEST FOR MUTATIONS IN THE HFE GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS", Journal of Clinical Pathology, 51(1), 1998, pp. 73-74

Abstract

Genetic testing for hereditary haemochromatosis is likely to be a significant workload for diagnostic laboratories. The C282Y and H63D mutations in the HFE gene associated with hereditary haemochromatosis havepreviously been detected using a number of methods including alterations in the restriction digest pattern of polymerase chain reaction (PCR) amplified products. An amplification refractory mutation system (ARMS) has been developed that will simultaneously detect both hereditaryhaemochromatosis mutations. Comparison of the results obtained from the analysis of 46 samples referred for hereditary haemochromatosis testing showed no discrepancies between ARMS and restriction enzyme digestion. Furthermore, consistent results were obtained by ARMS from both blood and buccal mouthwash samples. The ARMS test is quicker and less expensive in terms of consumables and scientist time than restriction enzyme analysis, and is therefore suited to the routine diagnostic analysis of hereditary haemochromatosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 11:53:24