Partanen J, Koskimies S
Hum Hered. 1986;36(5):269-75. doi: 10.1159/000153642.
Electrophoretically detected genetic polymorphism of human MHC class III genes, factor B (Bf) and complement C4A and C4B, was studied in the Finnish population. Bf alleles were determined in a panel of sera from 70 unrelated individuals. The common Bf alleles, BfS and BfF, had frequencies of 73% and 26%, respectively. Only in 1 individual was another allele, Bf*F1, detected. The frequencies of the C4A and C4B alleles were based on studies of 254 unrelated individuals. In this panel, five different alleles were detected at the C4A locus and four at the C4B locus. At both loci an allele without a gene product, i.e. a 'null' allele, was observed with high frequency, 11% for C4A 'null' and 17% for C4B 'null'. The association of complotypes to HLA haplotypes was analyzed in 70 chromosomes. The most common combination, defined by class I and class III alleles, was HLA-B7-S31 (13%), followed by HLA-B35-F20 (8.4%) and HLA-B8-S03 (7.1%). Some HLA-B specificities, for example B15, B27 and B40, were associated with a variety of complotypes. The importance of complotyping in HLA genetics is discussed.
在芬兰人群中研究了通过电泳检测的人类MHC III类基因、B因子(Bf)以及补体C4A和C4B的遗传多态性。在一组来自70名无关个体的血清中确定了Bf等位基因。常见的Bf等位基因BfS和BfF的频率分别为73%和26%。仅在1名个体中检测到另一个等位基因Bf*F1。C4A和C4B等位基因的频率基于对254名无关个体的研究。在该组中,在C4A位点检测到5种不同的等位基因,在C4B位点检测到4种。在这两个位点都观察到一个没有基因产物的等位基因,即“无效”等位基因,其频率较高,C4A“无效”为11%,C4B“无效”为17%。在70条染色体中分析了补体型与HLA单倍型的关联。由I类和III类等位基因定义的最常见组合是HLA - B7 - S31(13%),其次是HLA - B35 - F20(8.4%)和HLA - B8 - S03(7.1%)。一些HLA - B特异性,例如B15、B27和B40,与多种补体型相关。讨论了补体型分型在HLA遗传学中的重要性。