日本人C4多态性的单倍型研究。与MHC等位基因、补体型及HLA-补体单倍型的关联

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

作者信息

Tokunaga K, Omoto K, Akaza T, Akiyama N, Amemiya H, Naito S, Sasazuki T, Satoh H, Juji T

出版信息

Immunogenetics. 1985;22(4):359-65. doi: 10.1007/BF00430919.

Abstract

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.

摘要

在83个已进行HLA - A、 - B、 - C、 - DR、C2和BF分型的日本家庭中，对人类补体第四成分（C4）的基因多态性进行了研究。观察到4种常见的C4A等位基因和4种常见的C4B等位基因。从无关父母估计的等位基因频率如下：C4A3，0.686；A4，0.132；A2，0.106；AQ0，0.067；ARares，0.009；C4B1，0.587；B2，0.167；B5，0.088；BQ0，0.158。观察到8种频率超过0.01的不同C4单倍型。估计的单倍型频率如下：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；Rares，0.021。在以下C4 - HLA单倍型中发现了强正配子关联：C4A2BQ0 - A24、C4A2BQ0 - Bw52、C4A3B5 - Bw54、C4A3B5 - Bw59、C4A4B2 - Bw46、C4A3B5 - Cw1、C4A2BQ0 - DR2和C4A3B5 - DR4。观察到11种频率超过0.01的补体型。C4A2BQ0和C4A3B5仅与BFS - C2C相关。BFF与C4A3B1相关。C2AT、C2B和C2BH分别与C4A3B1、A4B2和C4A3B1相关。发现8种不同的HLA - 补体单倍型是日本人特有的。这些组合与高加索人群中报道的组合有很大不同。