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Genetic polymorphism of complement component C8
Authors:S. Rogde  B. Mevåg  P. Teisberg  T. Gedde-Dahl Jr.  F. Tedesco  B. Olaisen
Affiliation:(1) Institute of Forensic Medicine, University of Oslo, Rikshospitalet, Oslo 1, Norway;(2) Medical Department, Rikshospitalet, Oslo 1, Norway;(3) Department of Genetics, NHIK, Radiumhospitalet, Oslo 3, Norway;(4) Instituto di Patologia Generale, Università degli studi di Trieste, 34127 Trieste, Italy;(5) Rettsmedisinsk Institutt, Rikshospitalet, 0027 Oslo 1, Norway
Abstract:Summary Extensive genetic polymorphism of complement component C8 was demonstrated by isoelectric focusing of serum or plasma samples followed by immunoblotting procedures. Using these methods, we could detect both agr-gamma (C81) and beta (C82) chain polymorphisms in the same gel. Two-dimensional (2D) electrophoresis of C8 immunoprecipitates was used to obtain further information of the C8 patterns. Evidence was obtained that the C81 polymorphism resides in the structural gene of the C8 agr chain. Both C8 systems show autosomal, chiefly codominant inheritance, and the distribution of phenotypes agrees with the Hardy-Weinberg equilibrium. Our findings suggest at least five different alleles in the C81 system; the gene frequencies of the two most common ones, C81*A and C81*B being 0.59 and 0.39, respectively. In C82 we found evidence for at least three codominant alleles, the gene frequencies for the two most common ones, C82*B and C82*A being 0.94 and 0.05, respectively. In addition, family studies disclosed the existence of a null allele, C82*Q0.
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