ELSEVIER Clinica Chimica Acta 230 (1994) 101-104 Incidence of the apolipoprotein mutation in Denmark B-3500 P.S. Hansen* a, B. N@rgaard-Petersenb, H. Meiner&, H.K. Jensena, A.B.B. Hansend, I.C. Klausena, L.U. Gerdesa, 0. Faergeman” zyxwvutsrqponm aDepartment of Internal Medicine and Cardiology A, Aarhus Amtssygehus University Hospital, Tage-Hansensgade 2, DK-8000 Aarhus C, Denmark bStatens Serum Institut, CDepartment of Medicine B, Rigshospitalet, Copenhagen, Denmark dDepartment of Clinical Chemistry, Odense Sygehus, Denmark Received 28 March 1994; revision received 30 June 1994; accepted 6 July 1994 Abstract A total of 5000 consecutively sampled newborn screening cards were anonymously selected for screening for the apolipoprotein B-3500 (apo B-3500) mutation, which causes familial de- fective apolipoprotein B-100 (FDB). The mutation was found in 5 of 5000 Danish children, of whom 2 were twins. This indicates a lower prevalence of this mutation in Danes than that reported in the UK, Germany, USA, Austria, Canada and especially Switzerland. Haplotype studies suggest that Caucasian subjects with the apo B-3500 mutation have a common founder. The apparently lower prevalence in Denmark than in Switzerland and Central Europe may indicate that the mutation was brought from these areas to Denmark after the initial settling of Denmark. In 101 unrelated Danish subjects with familial hypercholesterolemia, diagnosed on clinical and biochemical criteria including tendon xanthomata, 2 were heterozygous for the apo B-3500 mutation (2%). Keywords: Apolipoprotein B-3500; Familial defective apolipoprotein B-100; Screening; Incidence; Prevalence; Human; Mutation 1. Introduction A guanine (G) to adenine (A) substitution at nucleotide 10 699 of the apolipopro- tein B (apo B) gene causes a glutamine for arginine substitution at amino acid resi- due 3500 in the apo B protein [ 11. Low density lipoproteins (LDL) carrying mutant l Corresponding author, Fax: +45 86 19 30 75. 0009-898KWSO7.00 0 1994 Elsevier Science B.V. All rights reserved SSDI 0009-8981(94)05913-D