Hemochromatosis mutations C282Y and H63D in 'cis' phase

Homozygosity for the C282Y mutation of the HFE gene is a highly significant risk factor for the development of hereditary hemochromatosis (HH) and the majority of patients with HH have this genotype. An Irish/Belgian female with an elevated serum ferritin level and a family history of hemochromatosi...

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Bibliographic Details
Published in:Clinical genetics 2001-07, Vol.60 (1), p.68-72
Main Authors: Best, LG, Harris, PE, Spriggs, EL
Format: Article
Language:English
Subjects:
Aged
Amino Acid Substitution
Biological and medical sciences
diagnosis
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Family Health
Female
genetic screening
genetics-population
Genotype
hemochromatosis
Hemochromatosis - genetics
Humans
linkage disequilibrium
Male
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Mutation
Other metabolic disorders
Pedigree
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Summary:Homozygosity for the C282Y mutation of the HFE gene is a highly significant risk factor for the development of hereditary hemochromatosis (HH) and the majority of patients with HH have this genotype. An Irish/Belgian female with an elevated serum ferritin level and a family history of hemochromatosis was tested for the presence of the C282Y and H63D mutations. Results of digested PCR products have shown the patient to be homozygous for C282Y mutation and heterozygous for H63D mutation. Sequencing confirmed these findings. Genotyping of the patient's offspring and husband has also indicated the inheritance of both C282Y and H63D in ‘cis’. Implications of this finding are: 1) the compound heterozygous state is by far the most common, but not the universal, phase for individuals found to be heterozygous for the two mutations, C282Y and H63D; 2) the C282Y and H63D mutations in the ‘cis’ phase may account for some cases of questionable parentage.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2001.600111.x