Tokunaga K, Omoto K, Yukiyama Y, Sakurai M, Saji H, Maruya E
Hum Genet. 1984;67(4):449-51. doi: 10.1007/BF00291408.
A family was found which indicated the existence of a silent allele (BF*QO) at the locus for complement factor B. Three generations with eight members were studied. Four individuals were considered to be heterozygous for B deficiency because of unusual segregation patterns of the BF electrophoretic variants and low levels of B. Haplotype study on the other HLA-linked markers supported the presumption. No unusual products were detected by immunoblotting after sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE).
发现了一个家族,这表明补体因子B基因座存在一个沉默等位基因(BF*QO)。对三代八名成员进行了研究。由于BF电泳变体的异常分离模式和低水平的B,有四人被认为是B缺乏杂合子。对其他HLA连锁标记的单倍型研究支持了这一推测。在十二烷基硫酸钠聚丙烯酰胺凝胶电泳(SDS-PAGE)后进行免疫印迹未检测到异常产物。