Summary
The analysis of genetic polymorphism in C4 was performed on EDTA-plasma from 169 healthy unrelated Koreans. Plasma samples were subjected to high-voltage agarose gel electrophoresis followed by immunofixation. C4B allotypes were further detected by a hemolytic overlay method. The allele frequencies of C4A and C4B were as follows; for C4A, C4A*3=0.6099, C4A*4=0.1702, C4A*Q0=0.1525, C4A*2=0.0461, and C4A*R=0.0213; for C4B, C4B*1=0.6406, C4B*2=0.2740, C4B*5=0.0569, C4B*Q0=0.0178, and C4B*R=0.0107. C4A*3 and C4B*1 were among the most common alleles at each locus. C4A*6 was not detected in this study, but this allele is relatively common in both Caucasoid and Negroid populations. C4B*5 is a common allele in Asian, which is rare in Caucasoid and Negroids. C4B*5 appeared to be a characteristic allele of Oriental. In the C4A locus, five individuals with duplicated allotypes (three C4A 3,3+2, one C4A 4,3+2, and one C4A 3,3+3) were observed, and in the C4B locus, one individual with duplicated allotype (C4B 1,1+1) was detected.
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Alper CA, Raum D, Karp S, Awdeh ZL, Yunis EJ (1983): Serum complement ‘Supergenes’ of the major histocompatibility complex in man (complotypes). Vox Sang45: 62–67
Awdeh ZL, Alper CA (1980): Inherited structural polymorphism of the fourth component of human complement. Proc Natl Acad Sci USA77: 3576–3580
Ayed K, Gorgi Y (1990): C3, BF and C4 polymorphisms in Tunisian. Hum Hered40: 363–367
Braun L, Schneider PM, Giles CM, Bertrams J, Ritter C (1990): Null alleles of human complement C4: Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. J Exp Med171: 129–140
Carroll MC, Campbell RD, Bentley DR, Porter RR (1984): A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature307: 237–241
Carroll MC, Belt KT, Palsdottir A, Yu Y (1985): Molecular genetics of the fourth component of human complement and steroid 21-hydroxylase. Immunol Rev87: 39–60
Chiarelli F, Verrotti A, Penna GL, Morgese G (1988): Low serum C4 concentration in type-I diabetes mellitus. Eur J Pediatr147: 197–198
Dunham I, Sargent CA, Trowsdale J, Campbell RD (1987): Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis. Proc Natl Acad Sci USA84: 7237–7241
Giles CM (1990): C4: Rodgers and Chido typing. Complement Inflamm7: 213–217
Giles CM, Uring-Lambert B, Boksch W, Braun M, Goetz J, Neumann R, Mauff G, Hauptmann G (1987): The study of a French family with two duplicated C4A haplotypes. Hum Genet77: 359–365
Hawkins BR, Serjeantson SW, Higgins DA (1988): Distribution and co-occurrence of MHC class I, II and III markers in Southern Chinese: Implications for autoimmune disease. Dis Markers6: 237–245
Howard PF, Hochberg MC, Bias WB, Arnett FC, McLean RH (1986): Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to systemic lupus erythematosus in Caucasian and Black Americans. Am J Med81: 187–193
Kim SJ, Nisperos B, Mickelson E, Choi IH, Dahlberg S, Kim JD, Giblett ER, Hansen JA (1986): The HLA system in the Korean population. Human Immunol17: 259–272
Mauff G, Alper CA, Awedh Z, Batchetor JR, Bertrams J, Brunn-Petersen G Dawkins RL, Demant P, Edwards J, Grosse-Wilde H, Hauptmann G, Klouda P, Lamm L, Mollenhauer E, Nerl C, Olaisen B, O'Neill G, Rittner C, Roos MH, Skanes V, Teisberg P, Wells L (1983): Statement on the nomenclature of human C4 allotypes. Immunobiology164: 184–191
Mauff G, Bender K, Giles CM, Goldmann S, Opferkuch W, Wachauf B (1984): Human C4 polymorphism: Pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations. Hum Genet65: 362–372
Mauff G, Alper CA, Dawkins R, Doxiadis G, Giles CM, Hauptmann G, Rittner C, Schneider PM (1990): C4 Nomenclature Statement (1990). Complement Inflamm7: 261–268
Mimori A, Takeuchi F, Tokunaga K, Maeda H, Matsuki K, Matsuta K, Nakano K, Kosuge E, Yukiyama Y, Omoto K, Miyamoto T (1990): Restriction fragment length polymorphism of complement C4 in Japanese patients with rheumatoid arthritis and normal Japanese. Tissue Antigens35: 197–202
O'Neill GJ, Yang SY, Dupont B (1978): Two HLA-linked loci controlling the fourth component of human complement. Proc Natl Acad Sci USA75: 5165–5169
Partanen J, Campbell RD (1989): Restriction fragment analysis of non-deleted complement C4 null genes suggests point mutations in C4A null alleles, but gene conversions in C4B null alleles. Immunogenetics30: 520–523
Partanen J, Koskimies S (1986): Human MHC class III genes, Bf and C4. Polymorphism, complotypes and association with MHC class I genes in the Finnish population. Hum Hered36: 269–275
Porter RR (1985): The complement components coded in the major histocompatibility complexes and their biological activities. Immunol Rev87: 7–17
Raum D, Awdeh Z, Anderson J, String L, Granados J, Teran L, Giblett E, Yunis EJ, Alper CA (1984): Human C4 haplotypes with duplicated C4A or C4B. Am J Hum Genet36: 72–79
Rosenfeld SI, Ruddy S, Austen KF (1969): Structural polymorphism of the fourth component of human complement. J Clin Invest48: 2283–2292
Schneider PM, Carroll MC, Alper CA, Rittner C, Whitehead AS, Yunis EJ, Colten HR (1986): Polymorphism of the human complement C4 and steroid 21-hydroxylase genes: Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants. J Clin Invest78: 650–657
Schneider PM (1990): C4 DNA RFLP reference typing report. Complement Inflamm7: 218–224
Schreiber RD, Müller-Eberhard HJ (1974): Fouth component of human complement: Description of a three polypeptide chain structure. J Exp Med140: 1324–1335
Spence MA, Spurr NK, Field LL (1989): Report of the committee on the genetic constitution of chromosome 6. Cytogenet Cell Genet51: 149–165
Tack BF, Janatova J, Thomas ML, Harrison RA, Hammer CH (1981): The third, fourth, and fifth components of human complement: Isolation and biochemical properties. Methods Enzymol80: 64–101
Tokunaga K, Omoto K, Akaza T, Akiyama N, Amemiya H, Naito S, Sasazuki T, Satoh H, Juji T (1985): Haplotype study on C4 polymorphism in Japanese. Association with MHC alleles, complotypes, and HLA-complement haplotypes. Immunogenetics22: 359–365
Tokunaga K, Zhang WJ, Christiansen FT, Dawkins RL (1991): The genomic structure of two ancestral haplotypes carrying C4A duplications. Immunogenetics34: 247–251
Vergani D (1987): Complement in type I (insulin-dependent) diabetes. Diabetologia30: 823
Yamada H, Watanabe A, Mimori A, Nakano K, Takeuchi F, Matsuta K, Tanimoto K, Miyamoto T, Yukiyama Y, Tokunaga K, Yokohari R (1990): Lack of gene detetion for complement in Japanese patients with systemic lupus erythematosus. J Rheumatol17: 1054–1057
Yu CY, Campbell RD (1987): Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinant: Application to thestudy of C4 null alleles. Immunogenetics25: 383–390
Yu CY, Campbell RD, Porter RR (1988): A structural model for the location of the Rodgers and the Chido antigenic determinants and their correlation with the human complement component C4A/C4B isotypes. Immunogenetics27: 399–405
Yu CY (1991): The complete exon-intron structure of a human complement component C4A gene: DNA sequences, polymorphism and linkage to the 21-hydroxylase gene. J Immunol146: 1057–1066
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Park, K.S., Choi, S.Y., Park, M.H. et al. Allotypes of the fourth component of complement in Korean. Jap J Human Genet 37, 285–292 (1992). https://doi.org/10.1007/BF01883319
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DOI: https://doi.org/10.1007/BF01883319