Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis
Autore:
Lubin, IM; Yamada, NA; Stansel, RM; Pace, RG; Rohlfs, EM; Silverman, LM;
Indirizzi:
Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA Univ N Carolina Chapel Hill NC USA 27599 b Med, Chapel Hill, NC 27599 USA
Titolo Testata:
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
fascicolo: 12, volume: 123, anno: 1999,
pagine: 1177 - 1181
SICI:
0003-9985(199912)123:12<1177:HGUMAP>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
CELL-SURFACE EXPRESSION; HEREDITARY HEMOCHROMATOSIS; LINKAGE-DISEQUILIBRIUM; TRANSFERRIN RECEPTOR; MUTATION ANALYSIS; C282Y MUTATION; H63D MUTATIONS; GENE; PREVALENCE; BETA(2)-MICROGLOBULIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Silverman, LM Univ N Carolina, Dept Pathol & Lab Med, CB 7525, Chapel Hill, NC 27599 USA Univ N Carolina CB 7525 Chapel Hill NC USA 27599 C 27599 USA
Citazione:
I.M. Lubin et al., "HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis", ARCH PATH L, 123(12), 1999, pp. 1177-1181

Abstract

Context.--Hereditary hemochromatosis is recognized as one of the most common autosomal recessive disorders, with a prevalence of 1 in 200 to 400 in the white population. Early detection and treatment are completely effectivein preventing pathology. It is anticipated that testing for hereditary hemochromatosis will increase, as will the need for a technology that can handle the demand. Objective.--To describe a high-throughput, single-tube, allele-specific multiplex polymerase chain reaction assay for identifying the 2 mutations in the HFE gene associated with hereditary hemochromatosis. Design.--Fluorescence-labeled polymerase chain reaction products from a multiplex polymerase chain reaction are analyzed by automated capillary electrophoresis. DataAnalysis.--The assay was validated by analysis of 25 blinded samples, and results were concordant with an established laboratory assay. Conclusion.--The assay described offers a significant improvement over manual laboratory assays in throughput, reduced technologist time, and cost.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 22:45:10