Haemochromatosis: Automated Detection of the Two Point Mutations in the HFE Gene: Cys282Tyr and His63Asp
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Abstract
Hereditary haemochromatosis (HH) is one of the most common inherited diseases among Caucasians. Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homozygous for the point mutation CYS282Tyr, while the majority of the remaining patients displays either a compound heterozygosity for the mutation CYS282Tyr and the point mutation HIS63Asp, or are homozygous for HIS63Asp. Though the disease can be treated easily, symptoms are non-specific, and onset and severity are influenced by environmental factors, and therefore the disease can remain undetected until decades of iron overload lead to irreversible damage in a variety of organs, which may result in their failure. In order to detect patients with HH, simple and cost-effective tests are needed. We have developed a rapid, automated, PCR-based test which makes use of a diagnostic restriction site in each of two amplified fragments. The test employs off-the-shelf chemistry and uses the automated detection process of an immunoassay analyzer that is available in many clinical laboratories, thus avoiding an additional investment in a more specialized PCR analyzer. Because of its low costs and easy handling, the assay is particularly suited for the routine clinical laboratories.
Copyright © 2000 by Walter de Gruyter GmbH & Co. KG
Articles in the same Issue
- Subject Index
- Author Index
- Contents
- Limitations of Randomized Clinical Trials. Proposed Alternative Designs
- Haemochromatosis: Automated Detection of the Two Point Mutations in the HFE Gene: Cys282Tyr and His63Asp
- Presence of Group IIa Secretory Phospholipase A2 in Mast Cells and Macrophages in Normal Human Ileal Submucosa and in Crohn's Disease
- Relationship between Plasma Ammonia Concentration and β-N-Acetylhexosaminidase Isoenzyme Activities in Liver Cirrhosis
- Thiol Redox Status Influences Extracellular Concentration of Homocysteine in HeLa Cell Cultures
- Serum Total and Lipid-Bound Sialic Acid Levels Following Acute Myocardial Infarction
- Concentration of Leukocyte Elastase in Plasma and Polymorphonuclear Neutrophil Extracts in Type 2 Diabetes
- Hypertriglyceridemia Characterized by Low-Density Lipoprotein Phenotype and Lipoprotein Lipase Gene Mutation
- Different Stability of Free and Complexed Prostate-Specific Antigen in Serum in Relation to Specimen Handling and Storage Conditions
- Erythrocyte Superoxide Dismutase and Glutathione Peroxidase Activities, and Malondialdehyde and Reduced Glutathione Levels in Schizophrenic Patients
- Reference Change Value for HbA1c in Patients with Type 2 Diabetes Mellitus
- Specific Oxidase Activity of Cord Serum Ceruloplasmin in the Newborn
- Sequential Evaluation of Serum Urate Concentrations in AIDS Patients with Infections of the Central Nervous System
- Evaluation of Iron Status in Anemic Patients with Rheumatoid Arthritis Using an Automated Immunoturbidimetric Assay for Transferrin Receptor
- IFCC Recommended Reference Method for the Determination of the Substance Concentration of Ionized Calcium in Undiluted Serum, Plasma or Whole Blood
- Current Situation of Clinical Chemistry in Mainland China
- Point of Care Testing. Editors: Christopher P. Price / Jocelyn M. Hicks
- Erratum: Familial Studies on the Genetics of Cardiovascular Diseases: the Stanislas Cohort
- Acknowledgement
Articles in the same Issue
- Subject Index
- Author Index
- Contents
- Limitations of Randomized Clinical Trials. Proposed Alternative Designs
- Haemochromatosis: Automated Detection of the Two Point Mutations in the HFE Gene: Cys282Tyr and His63Asp
- Presence of Group IIa Secretory Phospholipase A2 in Mast Cells and Macrophages in Normal Human Ileal Submucosa and in Crohn's Disease
- Relationship between Plasma Ammonia Concentration and β-N-Acetylhexosaminidase Isoenzyme Activities in Liver Cirrhosis
- Thiol Redox Status Influences Extracellular Concentration of Homocysteine in HeLa Cell Cultures
- Serum Total and Lipid-Bound Sialic Acid Levels Following Acute Myocardial Infarction
- Concentration of Leukocyte Elastase in Plasma and Polymorphonuclear Neutrophil Extracts in Type 2 Diabetes
- Hypertriglyceridemia Characterized by Low-Density Lipoprotein Phenotype and Lipoprotein Lipase Gene Mutation
- Different Stability of Free and Complexed Prostate-Specific Antigen in Serum in Relation to Specimen Handling and Storage Conditions
- Erythrocyte Superoxide Dismutase and Glutathione Peroxidase Activities, and Malondialdehyde and Reduced Glutathione Levels in Schizophrenic Patients
- Reference Change Value for HbA1c in Patients with Type 2 Diabetes Mellitus
- Specific Oxidase Activity of Cord Serum Ceruloplasmin in the Newborn
- Sequential Evaluation of Serum Urate Concentrations in AIDS Patients with Infections of the Central Nervous System
- Evaluation of Iron Status in Anemic Patients with Rheumatoid Arthritis Using an Automated Immunoturbidimetric Assay for Transferrin Receptor
- IFCC Recommended Reference Method for the Determination of the Substance Concentration of Ionized Calcium in Undiluted Serum, Plasma or Whole Blood
- Current Situation of Clinical Chemistry in Mainland China
- Point of Care Testing. Editors: Christopher P. Price / Jocelyn M. Hicks
- Erratum: Familial Studies on the Genetics of Cardiovascular Diseases: the Stanislas Cohort
- Acknowledgement
