Hypomorphic C4B* 15 variant of the fourth component of complement

FEBS Lett. 1990 Jan 29;260(2):183-6. doi: 10.1016/0014-5793(90)80099-5.

Abstract

We report a rare 'hypomorphic' C4 allotype detected during routine screening in controls for the Rogers:1 epitope. C4B* 15 was distinguished by having only faint staining when using polyclonal anti-C4 antibody on agarose immunoelectrophoresis (e.g. hypomorphic), having relatively weak hemolytic activity but being strongly reactive with monoclonal antibody to Rodgers 1. TaqI restriction fragment length polymorphism (RFLP) demonstrated that C4B* 15 segregated with 7 kb and 5.4 kb C4 gene fragments and with the haplotype HLA-A2,C-, B50,BW6,DR7,DQ2,DR52,SO7C2(1,15). The 5.4-kb fragment was more intense than the 7.0-kb fragment, suggesting duplication of the 5.4-kb fragment. This hypomorphic C4 allotype (genotype frequency = 0.0088) has diminished expression of C4 epitopes commonly recognized by polyclonal anti-C4 and may be missed by standard phenotyping methods.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Blotting, Western
  • Complement C4b / analysis*
  • Complement C4b / genetics
  • Complement C4b / immunology
  • DNA / analysis
  • Epitopes / analysis
  • Gene Frequency
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length

Substances

  • Epitopes
  • Complement C4b
  • DNA