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  • 1
    Electronic Resource
    Electronic Resource
    Apolipoprotein A-IV polymorphism in man (1982)
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 349-352 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In man, apolipoprotein A-IV is characterized by a genetically determined polymorphism controlled by two codominant alleles. Two isoforms of this apolipoprotein, designated A-IV-1 and A-IV-2, can be identified by isoelectric focusing. Among 1000 healthy factory workers participating in an epidemiological study, A-IV-1 (genotype 1-1) was observed in 85%; A-IV-2 (genotype 2-2), in 0.5%; and A-IV-1 in combination with A-IV-2 (genotype 1–2), in 14%. In four nonrelated subjects, an apolipoprotein A-IV variant (A-IV-Münster), characterized by a slightly more basic isoelectric focusing behavior than A-IV-2, was detected in combination either with A-IV-1 or A-IV-2. Mendelian inheritance of this variant could be demonstrated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00304554
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  • 2
    Electronic Resource
    Electronic Resource
    Frequency and effect of human apolipoprotein A-IV polymorphism on lipid and lipoprotein levels in an Icelandic population (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 344-346 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human apolipoprotein A-IV (apo A-IV) exhibits a genetic polymorphism with two common alleles, A-IV1 and A-IV2, in Caucasian populations. We have investigated this polymorphism in the Icelandic population. The frequencies of the two alleles are significantly different from middel European populations with a higher frequency of the A-IV2 allele (0.117 versus 0.077) occurring in Iceland. The alleles at the apo A-IV locus have significant effects on plasma high density lipoprotein cholesterol (HDL-C) and triglyceride levels. The average effect of the A-IV2 allele is to raise HDL-C by 4.9 mg/dl and to lower triglyceride levels by 19.4mg/dl. We estimate that the genetic variability at the apo A-IV gene locus accounts for 3.1% of the total variability of HDL-C and for 2.8% of the total variability of triglycerides in the population from Iceland. This confirms and extends our previous observations on apo A-IV allele effects in Tyroleans in an independent population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00196231
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  • 3
    Electronic Resource
    Electronic Resource
    Variation in the size of human apolipoprotein(a) is due to a hypervariable region in the gene (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 563-567 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210810
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  • 4
    Electronic Resource
    Electronic Resource
    Genetics of the quantitative Lp(a) lipoprotein trait (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 73-78 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Apolipoprotein(a) [apo(a)] is a large serum glycoprotein with several genetically determined isoforms differing in their apparent molecular weight. We determined the effects of the apo(a) isoforms on total cholesterol, high-density lipo-protein (HDL)-cholesterol, lipoprotein(a), and triglyceride levels in a sample of 473 unrelated Tyrolean adults. Average lipoprotein(a) and total cholesterol levels were significantly different among apo(a) types. These significant differences were found among the 13 apo(a) isoform patterns observed in this sample and among several logical subsets of the isoform patterns (e.g. considering only the single band types). The data suggest that the effects of apo(a) alleles on Lp(a) levels are additive. The effects of apo(a) on total cholesterol levels cannot be entirely explained by the cholesterol fraction estimated to be contained in the lipoprotein(a) particle. We estimate that the apo(a) glycoprotein polymorphism accounts for 41.9% and 9.6% of the variability in lipoprotein(a) and total cholesterol levels, respectively. This is the strongest effect of a single polymorphic gene on plasma lipid and lipoprotein levels reported so far.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00288277
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  • 5
    Electronic Resource
    Electronic Resource
    Genetics of the quantitative Lp(a) lipoprotein trait (1988)
    Springer
    Human genetics 〈Berlin〉 78 (1988), S. 47-50 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Lp(a) glycoprotein exhibits an apparent size polymorphism that is associated with genetically controlled Lp(a) lipoprotein concentrations in plasma (Utermann et al. 1988). We have tested the hypothesis that this polymorphism is genetically controlled by studying 15 matings with a total of 44 offspring. This confirmed our conclusion that Lp(a) types are controlled by a series of codominant alleles LpF, LpB, LpS1, LpS2, LpS3 and LpS4 and by a null allele Lpo. Together with the data from the accompanying paper this indicates that the structural gene for the Lp(a) protein is the major gene locus determining Lp(a) lipoprotein concentrations in plasma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291233
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  • 6
    Electronic Resource
    Electronic Resource
    Genetics of the quantitative Lp(a) lipoprotein trait (1988)
    Springer
    Human genetics 〈Berlin〉 78 (1988), S. 41-46 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The Lp(a) lipoprotein is a complex particle composed of a low density lipoprotein (LDL)-like lipoprotein and the disulfide bonded Lp(a) glycoprotein. The complex represents a quantitative genetic trait. SDS gel electrophoresis under reducing conditions of sera followed by immunoblotting with affinity-purified polyclonal anti-Lp(a) demonstrated inter-and intra-individual size heterogeneity of the glycoprotein with apparent Mr in the range 400–700 kDa. According to their relative mobilities compared to apo B-100 the Lp(a) patterns were categorized into phenotypes F, B, S1, S2, S3 und S4 and into the respective double-band phenotypes. This size heterogeneity seems to be controlled by multiple alleles designated LpF, LpB, LpS1, LpS2, LpS3, LpS4 and a null allele (Lpo) at a single locus. Phenotype frequencies observed in 441 unrelated subjects were in good agreement with those expected from the genetic hypothesis. Comparison of Lp(a) lipoprotein concentrations in the different phenotypes revealed a highly significant association of phenotypes B, S1 and S2 with high, and phenotypes S3 und S4 with intermediate Lp(a) concentrations. A third mode is represented by the null phenotype were no Lp(a) band is detected upon immunoblotting and Lp(a) lipoprotein is low or absent. We conclude that the same gene locus is involved in determining Lp(a) glycoprotein phenotype and Lp(a) lipoprotein concentrations in plasma. This major gene seems to be the Lp(a) glycoprotein structural gene locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291232
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  • 7
    Electronic Resource
    Electronic Resource
    Human apolipoprotein A-IV polymorphism: frequency and effect on lipid and lipoprotein levels (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 368-372 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human apolipoprotein (apo) A-IV is genetically polymorphic, the apo A-IV polymorphism being controlled by two common alleles, A-IV1 and A-IV2. We have developed a method for typing the apo A-IV polymorphism by Western blotting using polyclonal rabbit antiapo A-IV as the first and gold-labeled antirabbit IgG as the second antibody. Apolipoprotein phenotypes were determined in plasma samples from 473 tiroleans. The frequencies of the apo A-IV alleles in this sample were f(A-IV1)=0.919, f(A-IV2)=0.077, and f(A-IV3)=0.004. Although average triglyceride levels were lower in apo A-IV 2-1 heterozygotes, average total serum cholesterol and triglyceride levels were not significantly different among apo A-IV types. High density lipoprotein (HDL) cholesterol was significantly increased in individuals with the A-IV 2-1 phenotype. We estimate that genetic variation at the apo A-IV gene locus accounts for 11% of the total variability in HDL-cholesterol levels in Tiroleans. The effects of the apo A-IV polymorphism described here are consistant with, and may serve to enrich, our limited knowledge of the role of apo A-IV in lipid metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282179
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  • 8
    Electronic Resource
    Electronic Resource
    Apolipoprotein E phenotyping from serum by Western blotting (1986)
    Weinheim : Wiley-Blackwell
    Electrophoresis 7 (1986), S. 492-495 
    Details
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: A new method for the apolipoprotein E (apo E) phenotyping directly from human serum has been developed. The method is based on isoelectric focusing of delipidated serum in vertical slab gel systems followed by blotting and immunostaining using polyclonal anti-apo E antibodies as the first antibody. Apo E phenotyping with this method in 150 serum samples gave exactly the same results as obtained with the conventional method based on isoelectric focusing of delipidated very low density lipoproteins isolated by ultracentrifugation and detected by protein staining. Compared with the conventional method, the present method is less expensive, suitable for large-scale screening purposes e. g. diagnosis of type III hyperlipidemia and needs only a few microliters of serum. By application for screening of hyperlipidemic sera, we were able to detect two patients with an apo E-1 variant and two others with “new” E-3 and E-4 mutants by the described methods. In addition apparent molecular weight variants of apo E could be detected by sodium dodecyl sulfate-gel electrophoresis of sera followed by blotting and immunostaining.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150071103
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  • 9
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    Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease (1999)
    Springer Nature
    Details
    Publication Date: 1999-04-01
    Print ISSN: 1018-4813
    Electronic ISSN: 1476-5438
    Topics: Biology , Medicine
    Published by Springer Nature
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  • 10
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    Sensorineural hearing loss and the incidence of Cx26 mutations in Austria (2001)
    Springer Nature
    Details
    Publication Date: 2001-03-01
    Print ISSN: 1018-4813
    Electronic ISSN: 1476-5438
    Topics: Biology , Medicine
    Published by Springer Nature
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