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

Authors
Marziliano, N Bevilacqua, E Pirulli, D Spano, A Amoroso, A Crovella, S
Citation
N. Marziliano et al., Single tube melting temperature assay for rapid and sensitive detection ofthe most frequent hemocromatosis mutations, C282Y and H63D, HAEMATOLOG, 85(9), 2000, pp. 990-991
Citations number
3
Categorie Soggetti
Cardiovascular & Hematology Research
Journal title
HAEMATOLOGICA
ISSN journal
03906078 → ACNP
Volume
85
Issue
9
Year of publication
2000
Pages
990 - 991
Database
ISI
SICI code
0390-6078(200009)85:9<990:STMTAF>2.0.ZU;2-P
Abstract
We report the development of a single-tube assay for rapid genotyping of th e two mutations C282Y and H63D of the HFE gene, commonly detected by PCR-RF LP and responsible for 80% of cases of hereditary hemochromatosis. The meth od, named T melting curve analysis, discriminates between amplification pro ducts by their melting temperatures.