Genetics of Human C4 Polymorphism: Detection and Segregation of Rare and Duplicated Haplotypes

Overview

Journal Immunogenetics

Specialties Allergy & Immunology
Genetics

Date 1984 Jan 1

PMID 6201442

Citations 25

Authors

C Rittner

C M Giles

M H Roos

P Demant

E Mollenhauer

Affiliations

Soon will be listed here.

Abstract

Applying a combined technology for the detection of allotypic variation of the fourth component of human complement (C4), including immunofixation with anti-C4 and C4-dependent lysis after agarose electrophoresis, sodium dodecyl sulfate-polyacrylamide gel electrophoresis of C4 to separate the C4A and B alpha-chains, and the determination of Rodgers (Rg) and Chido (Ch) determinants of C4 in serum and at the blotted C4 alpha-chains, we detected rare human C4 allotypes and studied the genetic linkage. Partial inhibitors (p.i.) of anti-Rg and anti-Ch sera were found; the C4A51 allotype characterized as Rg p.i. and the C4A1 and C4B51 allotypes as Ch p.i. were genetically inherited. The C4A1 allotype has a unique Rg- Ch+ C4A alpha-chain. Duplicated C4A loci, A*3, A*2, and A*5, A*2 were both associated with a C4BQO and the HLA haplotype A3-Cw4-Bw35-DR1. These additions to the already known extensive C4 polymorphism may help to sort out their significance for the biological functions of human C4.

Citing Articles

Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex.

Chung E, Yang Y, Rennebohm R, Lokki M, Higgins G, Jones K Am J Hum Genet. 2002; 71(4):823-37.

PMID: 12226794 PMC: 378539. DOI: 10.1086/342777.

Population and formal genetics of the human C81(alpha-gamma) polymorphism.

Rittner C, Hargesheimer W, Mollenhauer E Hum Genet. 1984; 67(2):166-9.

PMID: 6745936 DOI: 10.1007/BF00272993.

Partial C4 deficiency in subacute sclerosing panencephalitis.

Rittner C, Meier E, Stradmann B, Giles C, Kochling R, Mollenhauer E Immunogenetics. 1984; 20(4):407-15.

PMID: 6490109 DOI: 10.1007/BF00345615.

C4B3 allotype with a novel Ch phenotype.

Skanes V, LARSEN B, Giles C Immunogenetics. 1985; 22(6):609-16.

PMID: 3865894 DOI: 10.1007/BF00430309.

Haplotype study on C4 polymorphism in Japanese. Associations with MHC alleles, complotypes, and HLA-complement haplotypes.

Tokunaga K, Omoto K, Akaza T, Akiyama N, Amemiya H, Naito S Immunogenetics. 1985; 22(4):359-65.

PMID: 3850846 DOI: 10.1007/BF00430919.

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