Variation in the size of human apolipoprotein(a) is due to a hypervariable region in the gene |
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Authors: | Gisela Lindahl Elisabeth Gersdorf Hans Jürgen Menzel Mary Seed Steve Humphries Gerd Utermann |
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Institution: | (1) Charing Cross Sunley Research Center, Lurgan Avenue, W68LW Hammersmith, London, UK;(2) Institut für Medizinische Biologie und Genetik der Universität, Schöpfstrasse 41, A-6020 Innsbruck, Austria;(3) Department of Medicine, Charing Cross and Westminster Medical School, Charing Cross Hospital, W68RF London, UK |
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Abstract: | Summary We have investigated whether the size heterogeneity of the human apolipoprotein (a) apo(a)] is due to differences in the number of plasminogen kringle 4-like repeat units present in the different alleles. Using the Southern blot hybridization technique and a DNA probe for the kringle 4 domain of plasminogen, we have observed that in 31 different individuals a 5.8-kb PvuII restriction fragment band varies widely in intensity relative to other bands. A strong correlation (r=0.76, P<0.001) was found between apo(a) protein size and the variation in intensity of the detected restriction fragment band. We confirmed this correlation in a large family where the parents are heterozygous for the apo(a) protein size isoforms. The specificity of the 5.8-kb band was established by using an apo(a)-specific oligonucleotide. These correlations strongly suggest that the observed size heterogeneity in apo(a) protein is due to different numbers of copies of the kringle 4 sequence in the apo(a) glycoprotein gene. |
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