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Research Article Free access | 10.1172/JCI110021

Genetic analysis of C4 deficiency.

Z L Awdeh, H D Ochs, and C A Alper

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Published January 1, 1981 - More info

Published in Volume 67, Issue 1 on January 1, 1981
J Clin Invest. 1981;67(1):260–263. https://doi.org/10.1172/JCI110021.
© 1981 The American Society for Clinical Investigation
Published January 1, 1981 - Version history
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Abstract

The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.

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