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HFE gene polymorphism defined by sequence‐based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences
Author(s) -
Campos W. N.,
Massaro J. D.,
Martinelli A. L. C.,
Halliwell J. A.,
Marsh S. G. E.,
MendesJunior C. T.,
Donadi E. A.
Publication year - 2017
Publication title -
hla
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.347
H-Index - 99
eISSN - 2059-2310
pISSN - 2059-2302
DOI - 10.1111/tan.13097
Subject(s) - genetics , intron , biology , exon , allele , haplotype , gene , nomenclature , transversion , population , hemochromatosis , human leukocyte antigen , hereditary hemochromatosis , medicine , zoology , taxonomy (biology) , antigen , environmental health
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: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (−44) T>C in intron 4, and (6) a new guanine deletion (G>del) in intron 5, which were used for haplotype inference. Nine HFE alleles were detected and six of these were officially named on the basis of the HLA Nomenclature, defined by the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA System, and published via the IPD‐IMGT/HLA website. Four alleles, HFE*001 , *002 , *003, and *004 exhibited variation within their exon sequences.