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

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	990-991
Number of pages	2
Journal	Haematologica
Volume	85
Issue number	9
Publication status	Published - 2000

Keywords

Hemochromatosis
HFE
Melting temperature
Mutation detection

ASJC Scopus subject areas

Hematology

Cite this

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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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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

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M3 - Article

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AN - SCOPUS:0033782454

VL - 85

SP - 990

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JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 9

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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