Inherited Structural Polymorphism of the Fourth Component of Human Complement

Human fourth component of complement (C4) was found to be highly polymorphic by agarose gel electrophoresis of neuraminidase-treated plasma. The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six str...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1980-06, Vol.77 (6), p.3576-3580
Main Authors: Awdeh, Zuheir L., Alper, Chester A.
Format: Article
Language:English
Subjects:
Alleles
Blood plasma
Chromosomes
Complement C4 - genetics
Electrophoresis
Electrophoresis, Agar Gel
Gels
Gene Frequency
Genetic Linkage
Genetic loci
Haplotypes
Heterozygotes
Human genetics
Humans
Immunoelectrophoresis
Major Histocompatibility Complex
Phenotype
Phenotypes
Polymorphism, Genetic
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Summary:Human fourth component of complement (C4) was found to be highly polymorphic by agarose gel electrophoresis of neuraminidase-treated plasma. The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six structural variants and a deletion allele at the C4A locus and two structural variants and a deletion allele at the C4B locus. Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex. Nine C4 haplotypes, each with a frequency of 0.005 or more in Caucasians, were found. These studies provide direct evidence for two distinct but closely linked genetic loci for human C4 in the major histocompatibility complex on the short arm of chromosome 6.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.77.6.3576