166 results match your criteria: "Institute for Medical Biology[Affiliation]"
Hum Genet
January 1995
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
Variation at the apolipoprotein E (apo E) gene locus affects cholesterol concentrations, the risk for atherosclerosis and Alzheimer disease (AD), and is associated with longevity in Caucasians. We have determined apo E gene frequencies and effects on cholesterol levels in Khoi San (Bushmen) from South Africa. The frequency of the apo epsilon 4 allele (0.
View Article and Find Full Text PDFHum Mutat
May 1995
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.
View Article and Find Full Text PDFHum Mutat
December 1995
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
We have developed a novel one-step pool screening PCR procedure which is based on the principles of amplification refractory mutation system (ARMS) and competitive oligonuleotide priming (COP) PCR. In addition to the usual primers, this approach uses two allele-specific competitive oligonucleotides, one of which is 3'-end labeled with a dideoxynucleotide and blocks amplification of the wild-type allele. An allele-specific product is generated only in the presence of the mutation.
View Article and Find Full Text PDFCurr Biol
April 1994
Institute for Medical Biology and Human Genetics, Innsbruck, Austria.
One particular variant of the polymorphic protein apolipoprotein E appears to be a risk factor for Alzheimer's disease, possibly because it directly promotes anyloid formation.
View Article and Find Full Text PDFGenomics
July 1993
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
J Clin Invest
November 1992
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
Lipoprotein(a) consists of a low-density lipoprotein containing apolipoprotein (apo) B-100 and of the genetically polymorphic apo(a). It is not known where and how lipoprotein(a) is assembled and whether there exists a precursor for lipoprotein(a). We have determined the phenotype, concentration, and distribution of apo(a) in plasma from patients with lipoprotein lipase (LPL) deficiency (type I hyperlipoproteinemia, n = 14), in apo E 2/2 homozygotes with type III hyperlipoproteinemia (n = 12) and in controls (n = 16).
View Article and Find Full Text PDFArterioscler Thromb
October 1992
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
Elevated concentrations of lipoprotein(a) (Lp[a]) in plasma are associated with premature coronary heart disease (CHD). Lp(a) levels are largely determined by alleles at the hypervariable apolipoprotein(a) (apo[a]) gene locus, but other genetic and environmental factors as well as diseases also affect plasma Lp(a) concentrations. It is therefore unclear whether Lp(a) is a primary genetic risk factor or whether Lp(a) levels are elevated secondary to disease in CHD patients.
View Article and Find Full Text PDFJ Clin Invest
March 1992
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
Elevated lipoprotein(a) (Lp[a]) concentrations are associated with premature coronary heart disease (CHD). In the general population, Lp(a) levels are largely determined by alleles at the hypervariable apolipoprotein(a) (apo[a]) gene locus, but other genetic and environmental factors also affect plasma Lp(a) levels. In addition, Lp(a) has been hypothesized to be an acute phase protein.
View Article and Find Full Text PDFArterioscler Thromb
March 1992
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
The distribution of Lp(a) lipoprotein (Lp[a]) and genetic apolipoprotein(a) (apo[a]) isoforms in plasma samples from 29 healthy normolipidemic subjects of known apo(a) phenotype was evaluated by density gradient ultracentrifugation. The density of Lp(a) was directly related to the size of the apo(a) isoform, ranging from 1.043 g/ml for the LpF phenotype to 1.
View Article and Find Full Text PDFClin Genet
March 1990
Institute for Medical Biology and Human Genetics, University of Graz, Austria.
Reciprocal translocations involving two chromosomes frequently cause abortion of unbalanced offspring. In many cases, however, meiosis leads to a cytogenetically normal or balanced gamete with normal embryonal development. In a couple investigated because of recurrent reproductive loss, the husband had a reciprocal exchange of parts of the long arms of chromosomes 9 and 10 in the form of inverted insertions.
View Article and Find Full Text PDFJ Biol Chem
January 1990
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
Patients with autosomal recessive abetalipoproteinemia (ABL) lack in their plasma all lipoproteins containing apolipoprotein (apo)B-100 or B-48. Previous studies have suggested that this is due to the complete absence of apoB. We have investigated whether such patients (n = 10) are able to secrete the lipoprotein(a) (Lp(a] glycoprotein (apo(a] which, in normal plasma, exists as a complex with low density lipoproteins containing apoB-100 (Lp(a) lipoprotein).
View Article and Find Full Text PDFScience
November 1989
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
Lipoprotein(a) [Lp(a)] is a macromolecular complex found in human plasma that combines structural elements from the lipoprotein and blood clotting systems and that is associated with premature coronary heart disease and stroke. It is assembled from low-density lipoprotein (LDL) and a large hydrophilic glycoprotein called apolipoprotein(a) [apo(a)], which is homologous to the protease zymogen plasminogen. Plasma Lp(a) concentrations vary 1000-fold between individuals and represent a continuous quantitative genetic trait with a skewed distribution in Caucasian populations.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
June 1989
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
The lipoprotein (a) [Lp(a)] contains two nonidentical protein species, apolipoprotein (apo) B-100 and a specific high molecular weight glycoprotein, apo(a). Lp(a) represents a continuous quantitative genetic trait, the genetics of which are only poorly understood. Genetic variation at the apo(a) locus affects plasma Lp(a) levels and explains at least 40% of the variability of this trait.
View Article and Find Full Text PDFArteriosclerosis
June 1988
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
A new method that allows rapid phenotyping of genetic Lp(a) glycoprotein types in large numbers of samples is described. The method is based on sodium dodecyl sulfate gel electrophoresis of reduced serum or plasma in horizontal slab gels followed by immunoblotting with polyclonal anti-Lp(a) lipoprotein or monoclonal anti-Lp(a) glycoprotein antibodies. Phenotyping of 194 unrelated, healthy subjects resulted in Lp(a) allele frequencies of Lp(a)B = 0.
View Article and Find Full Text PDFScand J Rheumatol Suppl
July 1989
Institute for Medical Biology, University of Tromsø, Norway.
Ciba Found Symp
May 1988
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
Genetic polymorphism and rare mutants of apolipoproteins occur in humans. The polymorphism of apolipoprotein E (apoE) is controlled by three common alleles, epsilon 2, epsilon 3, and epsilon 4, which code for proteins that differ in lipoprotein receptor binding activity, or in their catabolism in vivo, or both. This may explain the observed significant effects of the apoE alleles on the phenotypic variance of plasma lipoprotein concentrations in different ethnic groups and, moreover, the involvement of apoE alleles in the pathogenesis of multifactorial forms of hyperlipidaemia, for example, hypertriglyceridaemia, familial type III hyperlipidaemia (apoE-2 Arg-158----Cys) and polygenic hypercholesterolaemia (apoE-4 Cys-112----Arg).
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