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

Nicola Marziliano, Elena Bevilacqua, Doroti Pirulli, A Span, Antonio Amoroso, Sérgio Crovella

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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.

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What this paper is about

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.

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OpenAlex reports 6 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Melting curve analysis, Genotyping, Melting temperature, High Resolution Melt, Hemochromatosis, Hereditary hemochromatosis, Molecular biology, Tube (container)

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Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D. — Research Paper | ScholarLens