Abstract | BACKGROUND AND OBJECTIVES: DESIGN AND METHODS: To identify other mutations in H ferritin 5'UTR we developed a fast DNA scanning method based on denaturing high performance liquid chromatography (HPLC). Five artificial DNA mutants were produced in order to validate the analytical conditions of the system for the identification of all mutations by single runs at 68 degrees C. The system was used to screen 660 DNA samples from subjects with high serum ferritin levels. RESULTS: Two abnormal patterns were identified carrying the mutations C20G and G34T. Structural data and the analysis of ferritin levels in red blood cells suggest that these mutations do not affect the functionality of the IRE. INTERPRETATION AND CONCLUSIONS:
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Authors | Laura Cremonesi, Barbara Foglieni, Isabella Fermo, Anna Cozzi, Rita Paroni, Giuseppina Ruggeri, Silvana Belloli, Sonia Levi, Silvia Fargion, Maurizio Ferrari, Paolo Arosio |
Journal | Haematologica
(Haematologica)
Vol. 88
Issue 10
Pg. 1110-6
(Oct 2003)
ISSN: 1592-8721 [Electronic] Italy |
PMID | 14555306
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- 5' Untranslated Regions
- RNA
- DNA
- Ferritins
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Topics |
- 5' Untranslated Regions
(genetics)
- Aged
- Base Sequence
(genetics)
- Chromatography, High Pressure Liquid
(methods)
- DNA
(genetics)
- Female
- Ferritins
(genetics, physiology)
- Genetic Testing
(methods)
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
(genetics, physiology)
- Nucleic Acid Conformation
- Nucleic Acid Denaturation
(genetics)
- RNA
(genetics)
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