A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient
| Autor: | J.L. Dixon, L. W. Powell, Daniel F. Wallace, L. Summerville, Katherine E. Arden, Gregory J. Anderson, Grant A. Ramm, V.N. Subramaniam, Jeffrey Searle |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Population Mutation Missense Case Reports Biology Exon parasitic diseases medicine Humans Missense mutation Coding region Hemochromatosis Protein education Cation Transport Proteins Gene Hemochromatosis Genetics education.field_of_study Histocompatibility Antigens Class I Gastroenterology Membrane Proteins Sequence Analysis DNA Middle Aged medicine.disease Restriction enzyme Mutation (genetic algorithm) Melanesia |
| Zdroj: | ResearcherID |
| ISSN: | 0017-5749 |
| DOI: | 10.1136/gut.52.8.1215 |
| Popis: | Background: A severe form of iron overload with the clinicopathological features of haemochromatosis inherited in an autosomal dominant manner has been described in the Solomon Islands. The genetic basis of the disorder has not been identified. The disorder has similarities to type 4 haemochromatosis, which is caused by mutations in ferroportin1. Aims: The aims of this study were to identify the genetic basis of iron overload in a patient from the Solomon Islands. Patient and methods: Genomic DNA was isolated from peripheral blood leucocytes of a Solomon Islands man with severe iron overload. The entire coding region and splice sites of the ferroportin1 gene was sequenced. Results and conclusions: A novel missense mutation (431A>C; N144T) was identified in exon 5 of the ferroportin1 gene. A novel restriction endonuclease based assay which identifies both the N144T and N144H mutations was developed which will simplify the diagnosis and screening of patients for iron overload in the Solomon Islands and other populations. This is the first identified mutation associated with haemochromatosis in the Solomon Islands population. |
| Databáze: | OpenAIRE |
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