DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis

Blood Cells, Molecules & Diseases
Thomas KelleherJohn Crowe

Abstract

Homozygosity for a cysteine to tyrosine translocation at position 282 within the HFE gene (C282Y) is responsible for over 90% of hereditary hemochromatosis (HH) in Celtic populations. Determining those C282Y homozygotes at greatest risk for iron overload is a major clinical concern as only a small percentage will develop clinically significant iron overload. Divalent metal transport protein (DMT1) on the apical surface of duodenal enterocytes is recognised as the major iron import protein. We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic variability seen amongst a group of C282Y homozygotes with iron overload. One hundred and one unrelated C282Y homozygotes and 103 C282Y negative controls were analysed for the presence of four specific mutations/polymorphisms within the DMT1 gene (1245T/C, 1303C/A, IVS4 + 44C/A, IVS15Ex16-16C/G) using standard PCR techniques. Hepatic iron deposition was determined in 32 HH patients following Perls Prussian blue staining (0-4+). Estimations of the haplotype frequencies were performed utilising the program Arlequin version 2. There were no significant differences in the allele frequencies of the IVS4 + 44C/A, 1303C/A, 1254T/C and IVS15Ex16-16C/G p...Continue Reading

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Citations

Mar 1, 2012·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Daniel WysokinskiJacek P Szaflik
Oct 15, 2013·Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)·Adam PrzybyłkowskiAnna Członkowska
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Jul 23, 2011·Neuroscience Letters·Qing HeHong Jiang
Apr 24, 2008·Blood Reviews·Pierre BrissotOlivier Loréal
Jun 15, 2010·Gastroenterology·Antonello Pietrangelo
Mar 15, 2019·Ophthalmic Genetics·Rajkumar SankaranarayananAbhay Raghukant Vasavada
Nov 26, 2010·Molecular Biology Reports·Zeliha KayaaltiTülin Söylemezoğlu
Dec 25, 2019·International Journal of Genomics·Gerile WuyunXu Yan

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