O'Neill G J, Miniter P, Nerl C, Yang S Y, Dupont B, Pollack M S
Hum Immunol. 1982 Nov;5(3):239-46. doi: 10.1016/0198-8859(82)90137-9.
The genetic polymorphism of properdin factor B (BF) was studied in different populations. The rarer alleles, BFF1 and BFS1, occurred in Caucasians, were less frequent in North American blacks, and were not demonstrated in any of three Oriental populations studied. Two further alleles of BF, termed BFFM and BFSM, were found to exist in these populations. The BFFM allele, which was found only in Caucasians, codes for a functionally inactive factor-B product, whereas the BFSM allele (found in a single Chinese individual), like other alleles of BF, codes for a functionally active product. HLA haplotype analyses in individuals carrying the rarer alleles of BF revealed not only a strong association between BFF1 and HLA-B18 and BFS1 and HLA-Bw50 but an even stronger association between these BF alleles and alleles of the two C4 loci. BFF1 occurred most frequently on a C4A3,BQ0 haplotype, whereas the BFS1 allele was usually found on a C4A2,B1/BQ0 haplotype. HLA haplotypes carrying the BFFM and BFSM alleles all carried the more common C4A3,B*1 haplotype.
对不同人群中的备解素因子B（BF）基因多态性进行了研究。较罕见的等位基因BFF1和BFS1出现在高加索人群中，在北美黑人中出现频率较低，在所研究的三个东方人群中均未发现。在这些人群中还发现了BF的另外两个等位基因，称为BFFM和BFSM。仅在高加索人群中发现的BFFM等位基因编码一种功能失活的因子B产物，而BFSM等位基因（在一名中国个体中发现）与BF的其他等位基因一样，编码一种功能活性产物。对携带BF较罕见等位基因个体的HLA单倍型分析显示，不仅BFF1与HLA - B18以及BFS1与HLA - Bw50之间存在强关联，而且这些BF等位基因与两个C4基因座的等位基因之间存在更强的关联。BFF1最常出现在C4A3,BQ0单倍型上，而BFS1等位基因通常出现在C4A2,B1/BQ0单倍型上。携带BFFM和BFSM等位基因的HLA单倍型均携带更常见的C4A3,B*1单倍型。
