INCIDENCE OF THE APOLIPOPROTEIN B-3500 MUTATION IN DENMARK

A total of 5000 consecutively sampled newborn screening cards were ano nymously selected for screening for the apolipoprotein B-3500 (apo B-3 500) mutation, which causes familial defective apolipoprotein B-100 (F DB). The mutation was found in 5 of 5000 Danish children, of whom 2 we re twins. This indicates a lower prevalence of this mutation in Danes than that reported in the UK, Germany, USA, Austria, Canada and especi ally Switzerland. Haplotype studies suggest that Caucasian subjects wi th the apo B-3500 mutation have a common founder. The apparently lower prevalence in Denmark than in Switzerland and Central Europe may indi cate that the mutation was brought from these areas to Denmark after t he initial settling of Denmark. In 101 unrelated Danish subjects with familial hypercholesterolemia, diagnosed on clinical and biochemical c riteria including tendon xanthomata, 2 were heterozygous for the apo B -3500 mutation (2%).