, Volume 22, Issue 4, pp 359–365 | Cite as

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

  • Katsushi Tokunaga
  • Keiichi Omoto
  • Tatsuya Akaza
  • Nobuo Akiyama
  • Hiroshi Amemiya
  • Setsuya Naito
  • Takehiko Sasazuki
  • Hiroyuki Satoh
  • Takeo Juji


Genetic polymorphism of the fourth component of human complement (C4) was investigated in 83 Japanese families which have been typed for HLA-A, -B, -C, -DR, C2, and BF. Four common C4A alleles and four common C4B alleles were observed. The allele frequencies estimated from unrelated parents were as follows: C4A3, 0.686; A4, 0.132; A2, 0.106; AQ0, 0.067; ARares, 0.009; C4B1, 0.587; B2, 0.167; B5, 0.088; and BQ0, 0.158. Eight different C4 haplotypes were observed with frequencies of more than 0.01. The estimated haplotype frequencies were as follows: C4A3-B1, 0.513; A4-B2, 0.114; A2-BQ0, 0.106; A3-B5, 0.088; AQ0-B1, 0.059; A3-BQ0, 0.047; A3-B2,0.038; A4-B1, 0.015; and Rares, 0.021. Strong positive gametic associations were found in the following C4-HLA haplotypes: C4A2BQ0-A24, C4A2BQ0-Bw52, C4A3B5-Bw54, C4A3B5-Bw59, C4A4B2-Bw46, C4A3B5-Cw1, C4A2BQ0-DR2, and C4A3B5-DR4. Eleven complotypes were observed with frequencies of more than 0.01. C4A2BQ0 and C4A3B5 were exclusively associated with BFS-C2C. BFF was associated with C4A3B1, C2AT, C2B, and C2BH were associated with C4A3B1, A4B2, and C4A3B1, respectively. Eight different HLA-complement haplotypes were found to be characteristic of Japanese. These combinations are considerably different from those reported in Caucasoid populations.


Allele Frequency Genetic Polymorphism Haplotype Frequency Fourth Component Human Complement 
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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • Katsushi Tokunaga
    • 1
  • Keiichi Omoto
    • 1
  • Tatsuya Akaza
    • 2
  • Nobuo Akiyama
    • 3
  • Hiroshi Amemiya
    • 4
  • Setsuya Naito
    • 5
  • Takehiko Sasazuki
    • 6
  • Hiroyuki Satoh
    • 7
  • Takeo Juji
    • 8
  1. 1.Department of Anthropology, Faculty of ScienceUniversity of TokyoTokyoJapan
  2. 2.Tissue Typing LaboratoryNagoya Daini Red Cross HospitalNagoyaJapan
  3. 3.Department of Organ Transplantation, Institute of Medical ScienceUniversity of TokyoTokyoJapan
  4. 4.Department of Surgical Research, Research InstituteNational Cardiovascular CenterOsakaJapan
  5. 5.Department of Internal Medicine, Faculty of MedicineFukuoka UniversityFukuokaJapan
  6. 6.Department of Genetics, Medical Institute of BioregulationKyushu UniversityFukuokaJapan
  7. 7.Central Clinical LaboratoryKyushu University HospitalFukuokaJapan
  8. 8.Blood Transfusion ServiceTokyo University HospitalTokyoJapan

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