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 journalArticle

7 Citations (Scopus)

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

Fingerprint

Freezing
Mutation
Temperature
Hemochromatosis
Restriction Fragment Length Polymorphisms
Polymerase Chain Reaction
Genes

Keywords

  • Hemochromatosis
  • HFE
  • Melting temperature
  • Mutation detection

ASJC Scopus subject areas

  • Hematology

Cite this

Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D. / Marziliano, N.; Bevilacqua, E.; Pirulli, D.; Spano, A.; Amoroso, A.; Crovella, S.

In: Haematologica, Vol. 85, No. 9, 2000, p. 990-991.

Research output: Contribution to journalArticle

Marziliano, N. ; Bevilacqua, E. ; Pirulli, D. ; Spano, A. ; Amoroso, A. ; Crovella, S. / Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D. In: Haematologica. 2000 ; Vol. 85, No. 9. pp. 990-991.
@article{f1a41d6fec764fc5abbb43ce08ac986d,
title = "Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D",
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.",
keywords = "Hemochromatosis, HFE, Melting temperature, Mutation detection",
author = "N. Marziliano and E. Bevilacqua and D. Pirulli and A. Spano and A. Amoroso and S. Crovella",
year = "2000",
language = "English",
volume = "85",
pages = "990--991",
journal = "Haematologica",
issn = "0390-6078",
publisher = "NLM (Medline)",
number = "9",

}

TY - JOUR

T1 - Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D

AU - Marziliano, N.

AU - Bevilacqua, E.

AU - Pirulli, D.

AU - Spano, A.

AU - Amoroso, A.

AU - Crovella, S.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Hemochromatosis

KW - HFE

KW - Melting temperature

KW - Mutation detection

UR - http://www.scopus.com/inward/record.url?scp=0033782454&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033782454&partnerID=8YFLogxK

M3 - Article

C2 - 10982501

AN - SCOPUS:0033782454

VL - 85

SP - 990

EP - 991

JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 9

ER -