DNA Polymorphism of the C4 Genes

Authors:
  • AWAlexander S. Whitehead
    Alexander S. Whitehead
  • DWDerek E. Woods
    Derek E. Woods
  • EFEllen Fleischnick
    Ellen Fleischnick
  • JCJanice E. Chin
    Janice E. Chin
  • EYEdmond J. Yunis
    Edmond J. Yunis
  • AKAubrey J. Katz
    Aubrey J. Katz
  • PGPark S. Gerald
    Park S. Gerald
  • CAChester A. Alper
    Chester A. Alper
  • HCHarvey R. Colten
    Harvey R. Colten
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Abstract
Polymorphisms of the proteins encoded by genes that lie within the major histocompatibility complex (MHC) have served as useful markers for organ transplantation and in genetic analysis of a large number of MHC-linked diseases. To extend the range of MHC polymorphic markers, we used a complementary-DNA probe specific for the fourth component of human complement (C4) to identify a new variant within the MHC. Polymorphic variants at the DNA level were detected among subjects with identical phenotypes of the corresponding protein. C4 genomic polymorphisms are inherited with the segment of the short arm of chromosome 6 that carries the HLA-DR and complement loci. The autosomal codominant mode of inheritance of this genetic marker and its utility for evaluation of 21-hydroxylase–deficiency congenital adrenal hyperplasia, one of the many MHC-linked diseases, were established. (N Engl J Med 1984; 310:88–91.)

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