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

N. Marziliano, E. Bevilacqua, D. Pirulli, A. Spano, A. Amoroso, S. Crovella

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)990-991
Number of pages2
JournalHaematologica
Volume85
Issue number9
Publication statusPublished - 2000

Keywords

  • Hemochromatosis
  • HFE
  • Melting temperature
  • Mutation detection

ASJC Scopus subject areas

  • Hematology

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