Use of denaturing HPLC and a heteroduplex generator to detect the HFE C282Y mutation associated with genetic hemochromatosis.
نویسندگان
چکیده
منابع مشابه
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
BACKGROUND Between 4% and 35% of hereditary hemochromatosis (HC) probands are C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently. We evaluated denaturing HPLC (DHPLC) for screening of the whole HFE coding region and further defined whether HC probands with an incomplete HFE genotype carry uncommon mutations. METH...
متن کاملIdentification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
BACKGROUND Hereditary hemochromatosis is a recessive disorder characterized by iron accumulation in parenchymal cells, followed by organ damage and failure. The disorder is mainly attributable to the C282Y and H63D mutations in the HFE gene, but additional mutations in the HFE, transferrin receptor 2 (TfR2), and hepcidin genes have been reported. The copresence of mutations in different genes m...
متن کاملFrequency of C282Y and H63D Mutations of HFE Gene and Their Correlation with Iron Status in Iranian Beta-Thalassemia Major Patients
Background: Co-inheritance of hemochromatosis (HFE) gene mutations may play an essential role in the pathogenesis of iron overload in beta-thalassemia major (BTM) patients. The present study aimed to investigate the prevalence of HFE C282Y and H63D mutations in BTM patients and their correlation with some demographic data and biochemical iron markers. Materials and Methods: The study populat...
متن کاملLow frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis
BACKGROUND Hereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim...
متن کاملHFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y ...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 49 5 شماره
صفحات -
تاریخ انتشار 2003