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PMID: 7451653 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Genetic analysis of C4 deficiency.

The Journal of clinical investigation ·Vol. 67 ·No. 1 ·1981-01-00 ·Pages 260-3

Awdeh ZL, Ochs HD, Alper CA

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.

MeSH Terms

Chromosome Mapping Complement C4/deficiency,genetics Female Genes Genotype Humans Immunologic Deficiency Syndromes/genetics Male Pedigree

Chemicals

Complement C4

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Awdeh Z L

Ochs H D

Alper C A

References (15)

15 references, click to expand

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Chido and Rodgers blood groups are distinct antigenic components of human complement C4.
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J Immunol. 1978 Feb;120(2):538-41 PMID: 621392
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Article Info

Journal

The Journal of clinical investigation

Abbr.

J Clin Invest

ISSN

0021-9738

DOI

10.1172/JCI110021

Published

1981-01-00

Pages

260-3

Language

English

Region

United States

NLM ID

7802877

PMCID

PMC371595

Subset

Grants

NIAID NIH HHS · AI 14157 · United States

NIAID NIH HHS · AI 15033+ · United States

NIADDK NIH HHS · AM 16392 · United States

External Links

PubMed source DOI: 10.1172/JCI110021 PMC Full Text View journal details

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