Abstract
The prevalence of the familial defective apolipoprotein B-100 (FDB) Arg3500Gln mutation in 525 unrelated hypercholesterolaemic Polish subjects was evaluated. DNA samples were screened for FDB mutation using SSCP method. Presence of mutation was confirmed using a mismatch MspI PCR strategy. Plasma lipid levels and clinical characteristics of 13 patients identified as carriers of the mutation and of their 23 affected relatives were analysed and compared with non-affected ones. In the affected individuals a variable expression of lipid concentrations and of atherosclerosis symptoms were observed. The prevalence of FDB Arg3500Gln mutation in hypercholesterolaemic Polish subjects (3.7%) seems to be similar to the frequency reported in other Caucasian hypercholesterolaemic populations. The estimated prevalence of the mutation in general Polish population is relatively high being 1/250. The same haplotype at the apoB locus in the carriers of this mutation in Poland as in other populations from Western Europe suggests its common origin. In one hypercholesterolaemic subject a non-hitherto described mutation was identified. It consisted in C→T transition in apoB codon 3492 leading to threonine to isoleucine substitution in 3492 position of apoB gene (Thr3492Ile).
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Acknowledgements
This work was supported by grant No 4 P05D 038 09 from the Komitet Badan´ Naukowych, Poland. DNA from a Dutch patient heterozygous for the FDB Arg3500Gln mutation and Apo-B-5 and Apo-B-3 primers and the description of the mismatch MspI PCR method were kindly supplied by JC Defesche, PhD, Amsterdam, The Netherlands. DNA from a German patient heterozygous for the FDB Arg3500Gln mutation was the gift from Prof H Schuster, Berlin, Germany.
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Bednarska-Makaruk, M., Bisko, M., Puławska, M. et al. Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. Eur J Hum Genet 9, 836–842 (2001). https://doi.org/10.1038/sj.ejhg.5200720
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DOI: https://doi.org/10.1038/sj.ejhg.5200720
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