title: Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers.
abstract: Hereditary haemochromatosis (HH), a condition of abnormal iron metabolism which leads to iron overload and organ damage, previously known as bronze diabetes or idiopathic haemochromatosis, is the most common disease-producing genetic disorder among Europeans. Two mutations, C282Y and H63D, are described for the candidate gene, HFE, reported as being responsible for the disease. Since molecular testing of these mutations will be of value in early diagnosis of haemochromatosis, the aim of this study was to develop a simple, fast and inexpensive technique for the determination of the polymorphism in the HFE gene on a large scale. We designed sequence-specific primers for polymerase chain reaction (PCR-SSP) and tested 200 randomly selected healthy Danes and found the result completely comparable to results obtained by a previously described method, PCR-RFLP. The gene frequencies in the Danish population are similar to reported results for the White population, with a frequency of 0.068 for the C282Y mutation and a frequency of 0.128 for the H63D mutation.
authors.affiliation: Regional Center for Blood Transfusion and Clinical Immunology, Aalborg Hospital, Denmark. rudi@inet.uni2.dk
authors.forename: R
authors.initials: R
authors.lastname: Steffensen
authors.forename: K
authors.initials: K
authors.lastname: Varming
authors.forename: C
authors.initials: C
authors.lastname: Jersild
mesh_terms: D017931:DNA Primers; D003718:Denmark / Q000453:epidemiology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D017931:DNA Primers