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Immunogenetics

, Volume 30, Issue 4, pp 291–295 | Cite as

DNA polymorphism of the human complementC8β gene: formal genetics and intragenic localization

  • Daniela Herrmann
  • James M. Sodetz
  • Christian Rittner
  • Peter M. Schneider
Article

Abstract

The eighth component of human complement consists of three subunits of different molecular mass, which are coded for by three separate genetic loci. Polymorphisms have been described at the protein level for the alpha and beta subunits by means of sodium dodecyl sulfate gel electrophoresis and isoelectric focusing. Using a full-length humanC8β cDNA probe, we have studied more than 100 individuals by Southern blot analysis to detect DNA polymorphisms. We have found two restriction fragment length polymorphisms (RFLPs) with the enzymesTaqI andBam HI. TheTaq I polymorphism is defined by two alleles, i.e., a single 4.9 kb fragment or two 2.8/2.1 kb fragments. The allele frequencies are 0.68 and 0.32, respectively. The second RFLP withBam HI is correlated with theTaq I variants: 3 kbBam HI; 4.9 kbTaq I and 3.3 kbBam HI; 2.8/2.1 kbTaqI. Both RFLPs could be mapped to the 3′ portion of theC8β gene. Based on the size of genomic restriction fragments, theC8β gene can be estimated to have a size of 32–36 kb. Because of the even frequency distribution, theC8β DNA polymorphisms may be useful in gene mapping and disease association studies.

Keywords

Sodium Dodecyl Sulfate Restriction Fragment Length Polymorphism Restriction Fragment Southern Blot Analysis cDNA Probe 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • Daniela Herrmann
    • 1
  • James M. Sodetz
    • 2
  • Christian Rittner
    • 1
  • Peter M. Schneider
    • 1
  1. 1.Institut für Rechtsmedizin der Johannes Gutenberg-UniversitätMainzFederal Republic of Germany
  2. 2.Department of ChemistryUniversity of South CarolinaColumbiaSouth CarolinaUSA

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