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 |
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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 journal › Article
}
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 -