DETERMINATION OF GENE-FREQUENCIES FOR 2 COMMON HEMOCHROMATOSIS MUTATIONS IN THE DANISH POPULATION BY A NOVEL POLYMERASE-CHAIN-REACTION WITHSEQUENCE-SPECIFIC PRIMERS

Hereditary haemochrumatosis (HH), a condition of abnormal iron metabol ism which leads to iron overload and organ damage, previously known as bronze diabetes or idiopathic haernochromatosis, is the most common d isease-producing genetic disorder among Europeans. Two mutations, C282 Y and H63D, are described fur the candidate gene, HFE, reported as bei ng responsible for the disease. Since molecular testing of these mutat ions will he 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 s cale. We designed sequence-specific primers for polymerase chain react ion (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 populat ion are similar to reported results for the White population, with a f requency of 0.068 for the C282Y mutation and a frequency of 0.128 for the H63D mutation.