A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
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منابع مشابه
A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
Hereditary haemochromatosis is a common genetic disorder that causes hyperabsorption of dietary iron, leading to increased deposition and various organic diseases. Early diagnosis is important if effective treatment is to be applied and the iron overload corrected before the onset of clinical symptoms. Recently, a candidate gene has been identified in which a single point mutation shows a very ...
متن کاملA PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haemochromatosis.
Hereditary haemochromatosis is an autosomal recessive disease in which there is defective regulation of iron absorption, causing gradual accumulation of excessive amounts of iron in certain organs. Recently, a candidate gene for hereditary haemochromatosis has been identified, located on the short arm of chromosome 6, telomeric to the major histocompatibility complex (MHC) and showing sequence ...
متن کاملHomozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
A candidate gene for hereditary haemochromatosis, HLA-H, has recently been presented. Two missense mutations in the HLA-H gene sequence are predicted to account for nearly 90% of all cases of the disease. The aim of this study was to correlate the presence of these missense mutations with the expressivity of the disease, as assessed by standard biochemical evaluation of serum iron parameters. D...
متن کاملNon HFE related hereditary haemochromatosis.
Hereditary hemochromatosis (HH) is manifested as iron overload in different organs due to homozygosity of a single autosomal mutation. Two different mutations C282Y and H63D in the HFE gene have been associated with hereditary hemochromatosis cases. This disease is seen in northern european populations, but in India it is a rare disease. We report a young male with severe abnormalty of liver fu...
متن کاملTesting families with HFE-related hereditary haemochromatosis.
HFE-related hereditary haemochromatosis is the most common autosomal recessive disorder in the Caucasian population. In 1996 the responsible gene (called HFE) was identified. Two mutations (C282Y and H63D) are considered most important and occur frequently in the Caucasian population. We describe a family of an affected proband in which first- and second-degree relatives were tested phenotypica...
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ژورنال
عنوان ژورنال: Molecular Pathology
سال: 1997
ISSN: 1366-8714
DOI: 10.1136/mp.50.5.275