Intragenic haplotype analysis of common HFE mutations in the Portuguese population
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Most individuals with hereditary haemochromatosis are homozygous for the HFE gene mutation p.C282Y, and mutations p.H63D and p.S65C are associated with a mild iron overload phenotype. This work aims to investigate the HFE intragenic haplotype background associated with p.C282Y, p.H63D and p.S65C mutations in the Portuguese population by using seven intragenic single-nucleotide polymorphisms (SNPs). Ninety-eight subjects of Portuguese origin, previously diagnosed for the most common HFE gene mutations, were analysed and intragenic haplotypes were derived. Mutation p.C282Y (chr=56) was associated with one single haplotype GCTGTGC, and p.H63D (chr=81) was associated with two different haplotypes, GCCGTAC (66.7%) and CGCGTAC (33.3%). The p.S65C variant (chr=9) was found in the context of the single haplotype GCCGCAC. This study highlight, for the first time, the intragenic haplotypes associated with common HFE mutations in the Portuguese population.
KeywordsHFE mutations intragenic SNPs haplotypes iron overload Portugal.
This work was supported by Fundação para a Ciência e Tecnologia (FCT) (PEst-OE/SADG/UI0283/2011).
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