Rapid diagnosis of hemochromatosis gene Cys282Tyr mutation by SSCP analysis
نویسندگان
چکیده
منابع مشابه
Increased Risk of Acute Myocardial Infarction in Carriers of the Hemochromatosis Gene Cys282Tyr Mutation
Background—Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-associated (HFE) gene was recently found to account for most cases of hereditary hemochromatosis. Because excess iron has been postulated to enhance risk of vascular disease, we studied whether occurrence of this mutation was associated with increased risk of first acute myocardial infarction in heal...
متن کاملRapid genetic screening for hemochromatosis using automated SSCP-based capillary electrophoresis (SSCP-CE).
Hereditary hemochromatosis (HHC) represents an autosomal recessive disease in which increased iron absorption causes iron overload and irreversible tissue damage. The recently detected association between two point mutations in the HFE gene on chromosome 6p and HHC has made it possible to screen for the disease before the onset of irreversible tissue damage. Conventional genetic testing is base...
متن کاملThe HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.
It is not unusual for a disease to be considered rare when first described and to prove to be much more prevalent as the medical profession becomes aware of its existence. This seemed to be the case with hereditary hemochromatosis. But now the perception that hemochromatosis is a common disease has undergone a sudden reversal. Although everyone does not yet agree, the data that have accumulated...
متن کاملIncreased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland.
Background-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-associated (HFE) gene was recently found to account for most cases of hereditary hemochromatosis. Because excess iron has been postulated to enhance risk of vascular disease, we studied whether occurrence of this mutation was associated with increased risk of first acute myocardial infarction in heal...
متن کاملPreeclampsia and the C282Y mutation in the hemochromatosis (HFE) gene.
To the Editor: The hemochromatosis (HFE) gene encodes the HFE protein, a transmembrane glycoprotein that is implicated in the modulation of iron uptake from the diet (1 ). The C282Y mutation in this gene is known to be associated with moderately increased serum iron indices. Recently, several studies have described an association between increased maternal iron status and an unfavorable pregnan...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 1998
ISSN: 0361-8609,1096-8652
DOI: 10.1002/(sici)1096-8652(199803)57:3<260::aid-ajh18>3.0.co;2-e