title: Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.
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.
authors.affiliation: Institut für Klinische Chemie, Universität zu Köln, Germany.
authors.forename: K R
authors.initials: KR
authors.lastname: Klingler
authors.forename: D
authors.initials: D
authors.lastname: Zech
authors.forename: K
authors.initials: K
authors.lastname: Wielckens
mesh_terms: D001224:Aspartic Acid / Q000737:chemistry; D003545:Cysteine / Q000737:chemistry; D004252:DNA Mutational Analysis; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D006639:Histidine / Q000737:chemistry; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000191:economics / Q000295:instrumentation / Q000379:methods; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014443:Tyrosine / Q000737:chemistry
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D001224:Aspartic Acid; D014443:Tyrosine; D006639:Histidine; D003545:Cysteine