Park K S, Park M H, Juji T, Tokunaga K
Department of Biology, Sung Shin Women's University, Seoul, Republic of Korea.
Tissue Antigens. 1996 Mar;47(3):200-5. doi: 10.1111/j.1399-0039.1996.tb02541.x.
Specific alleles at C4A, C4B and BF loci occur in populations and are inherited in complotypes, which are linked with particular HLA haplotypes. Considerable differences in complement allele and complotype frequencies have been observed among various ethnic groups. In the present study, 109 Korean families were analyzed for complement and complotype polymorphism. Thirty-four different complotypes were detected: the most common was BFS-C4A3-C4B1 (S31) with a frequency of 42.2%, followed by S42 (14.3%) and F31 (13.8%). Three complotypes, S42, F31, and FQ01, showed positive linkage disequilibrium. Some of the complotypes were linked with characteristic HLA haplotypes. Two complotypes carrying duplicated C4A genes, S3+31(BFS-C4A3-C4A3-C4B1) and S3+2Q0(BFS-C4A3-C4A2-C4B*Q0), were exclusively associated with HLA-A24-Cw7-B7-DR1-DQ1 and A24-CBL-B52-DR15-DQ1 haplotypes, respectively. Twelve families showed recombinant haplotypes, nine in the class I region, three between the HLA-B and HLA-DR loci, and none in the class III region. Maternal recombination occurred twice as frequently as paternal. The results obtained in this study represent the frequencies of complotypes and extended HLA haplotypes of well-defined Koreans, based on a family study.
C4A、C4B和BF基因座上的特定等位基因出现在人群中，并以补体型的形式遗传，这些补体型与特定的HLA单倍型相关联。在不同种族群体中，已观察到补体等位基因和补体型频率存在相当大的差异。在本研究中，对109个韩国家庭进行了补体和补体型多态性分析。检测到34种不同的补体型：最常见的是BFS-C4A3-C4B1（S31），频率为42.2%，其次是S42（14.3%）和F31（13.8%）。三种补体型S42、F31和FQ01表现出正连锁不平衡。一些补体型与特征性HLA单倍型相关联。两种携带重复C4A基因的补体型，S3+31（BFS-C4A3-C4A3-C4B1）和S3+2Q0（BFS-C4A3-C4A2-C4B*Q0），分别仅与HLA-A24-Cw7-B7-DR1-DQ1和A24-CBL-B52-DR15-DQ1单倍型相关。12个家庭显示出重组单倍型，9个在I类区域，3个在HLA-B和HLA-DR基因座之间，III类区域没有。母系重组发生的频率是父系的两倍。基于家庭研究，本研究获得的结果代表了明确界定的韩国人的补体型和扩展HLA单倍型频率。
