title: Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population.
abstract: Type 1 hemochromatosis is a disorder of iron metabolism mostly related to the HFE gene mutations. In the present study, we performed a mutation analysis to determine the frequencies of the HFE gene mutations (C282Y, H63D, and S65C) in DNA samples of 100 healthy Ecuadorian individuals. We used the polymerase chain reaction (PCR) to amplify exons 2 and 4 of the HFE gene and then the restriction fragment length polymorphism (RFLP) method to detect the mutations. The results revealed that the mutations in the normal Ecuadorian population have frequencies of 0.0, 0.035, and 0.04 for C282Y, H63D, and S65C, respectively. We also searched for these mutations in 12 hemochromatosis patients, and the frequencies that we found were 0.0 for C282Y, 0.167 for H63D, and 0.042 for S65C. We found differences [using the chi-square (chi2) test] in the frequency of the H63D mutation between the control group and the group of hemochromatosis patients (p<0.01). This suggests that in Ecuador, type 1 hemochromatosis is more influenced by the H63D mutation than the other two mutations that we analyzed. Given that in a Caucasian population hereditary hemochromatosis is mostly related to the C282Y mutation, it is possible that the findings for the Ecuadorian population are due to geographical differences between the populations.
authors.affiliation: Unidad de Genética, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador. pleone@puce.edu.ec
authors.forename: Paola E
authors.initials: PE
authors.lastname: Leone
authors.forename: Patricia
authors.initials: P
authors.lastname: Giménez
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Collantes
authors.forename: César
authors.initials: C
authors.lastname: Paz-y-Miño
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004484:Ecuador / Q000453:epidemiology; D005787:Gene Frequency; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017720:Molecular Epidemiology; D020125:Mutation, Missense
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins