Hemochromatosis gene (HFE) has been localized 4.5 Mb telomeric to the HLA-A locus. This gene encodes a 343 AA protein homologous to major histocompatibility class I molecules. Two missense mutations, C282Y and H63D, have been identified in patients. In view of its high frequency in normal ...
The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as wel...
Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndromeObjectives The recent availability of potent oral iron chelators is renewing an interest in the assessment of the possible impact of HFE genetics in myelodysplastic syndrome (MDS). Methods Thirty-six newly ...
High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for heredita... V Judit,T Gábor,K ...
Hemochromatosis gene status as a risk factor for Barrett’s esophagus. Dig Dis Sci. 2008; 53 :3095–3102.Corley DA, Kubo A, Levin TR, Block G, Habel L, Rumore GJ, Quesenberry C, Buffler P. Hemochromatosis gene status as a risk factor for Barrett's esophagus. Dig Dis Sci. 2008;53(...
The hemochromatosis gene (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes an HLA class I like protein and two missense mutations, C282Y and H63D in complete disequilibrium have been identified within this gene. Due to its high frequency in the general population, the ...
Jazwinska, E.C.,et al., " Where Does the Gene for Hemochromatosis Lie in Relation to HLA-A?, " Hepatology (1994) 19:1050-1051 (Queensland Institute of Medical Research).Jazwinska EC, Halliday JW, Powell LW (1994) Where does the gene for hemochromatosis lie in relation to HLA-A?
Hemochromatosis is more common in males, and particularly affects white people of Northern European ancestry. An estimated 175,000 men of European ancestry in the UK have the two gene variations that cause hemochromatosis. The disorder is known as the "Celtic curse" because it is particularly prev...
The hemochromatosis (HC) gene is known to be linked to HLA-A (6p21.3); however, its precise location has been difficult to determine because of a lack of additional highly polymorphic markers for this region. The recent identification of short tandem repeat sequences (microsatellites) has now ...
Hereditary hemochromatosis gene 专利名称：Hereditary hemochromatosis gene 发明人：WINSTON J THOMAS,DENNIS T DRAYNA,JOHN N FEDER,ANDREAS GNIRKE,DAVID RUDDY,ZENTA TSUCHIHASHI,ROGER K WOLFF 申请号：AU5991701 申请日：20010816 公开号：AU5991701A 公开日：20011018 专利内容由知识产权出版社提供 摘要：The ...