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A study of 3,011 unrelated white Australians found that 14% were heterozygous carriers of an HFE mutation, 0.5% were homozygous for an HFE mutation, and only 0.25% of the study population had clinically relevant iron overload. Most patients who are homozygous for HFE mutations do not manifest clinically relevant haemochromatosis (see Genetics ...
HFE. The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. [1] [2] [3]
The predominant HFE full-length transcript has ~4.2 kb. [9] Alternative HFE splicing variants may serve as iron regulatory mechanisms in specific cells or tissues. [9] HFE is prominent in small intestinal absorptive cells, [10] [11] gastric epithelial cells, tissue macrophages, and blood monocytes and granulocytes, [11] [12] and the ...
Molecular analysis of the genome was not yet possible, but protein sequencing revealed cases caused by compound heterozygosity. [4] As molecular genomic techniques became available in the 1980s and 1990s, it became possible to explain a range of disorders in heterozygotes carrying one copy of one of the classic mutations for phenylketonuria. [5]
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis.
Suppressor mutations can be described as second mutations at a site on the chromosome distinct from the mutation under study, which suppress the phenotype of the original mutation. [14] If the mutation is in the same gene as the original mutation it is known as intragenic suppression , whereas a mutation located in a different gene is known as ...
A mutation accumulation (MA) experiment is a genetic experiment in which isolated and inbred lines of organisms (so-called MA lines) are maintained such that the effect of natural selection is minimized, with the aim of quantitatively estimating the rates at which spontaneous mutations (mutations not caused by exogenous mutagens) occur in the studied organism.