HFE gene polymorphism defined by sequence based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.
- W N Campos,
- J D Massaro,
- A L C Martinelli,
- J A Halliwell,
- S G E Marsh,
- C T Mendes-Junior,
- E A Donadi
HLA 2017 Jul 20. Epub 2017 Jul 20.
Division of Clinical Immunology, Department of Medicine, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil.
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: i) H63D C > G in exon 2, ii) IVS2 (+4) T > C in intron 2, iii) a C > G transversion in intron 3, iv) C282Y G > A in exon 4, v) IVS4 (-44) T > C in intron 4, and vi) a new Guanine deletion (G > del) in intron 5, which were used for haplotype inference. Read More