We report the development of a single-tube assay for rapid genotyping of the two mutations C282Y and H63D of the HFE gene, commonly detected by PCR-RFLP and responsible for 80% of cases of hereditary hemochromatosis. The method, named T melting curve analysis, discriminates between amplification products by their melting temperatures.

Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D

Amoroso A.;
2000-01-01

Abstract

We report the development of a single-tube assay for rapid genotyping of the two mutations C282Y and H63D of the HFE gene, commonly detected by PCR-RFLP and responsible for 80% of cases of hereditary hemochromatosis. The method, named T melting curve analysis, discriminates between amplification products by their melting temperatures.
2000
85
9
990
991
Hemochromatosis; HFE; Melting temperature; Mutation detection
Marziliano N.; Bevilacqua E.; Pirulli D.; Spano A.; Amoroso A.; Crovella S.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1772875
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