Alper C A, Rosen F S
J Clin Invest. 1971 Feb;50(2):324-6. doi: 10.1172/JCI106498.
A hypomorphic electrophoretic variant of C3 with the mobility of C3 F was found in the serum of a healthy man, his mother, and one of his two sons. Serum C3 concentrations were normal in these subjects as were hemolytic complement levels. Metabolic studies with radiolabeled purified C3 FF and C3 SS in the propositus suggested, but did not prove, that the variant C3 F gene was hyposynthetic. The designation C3 f was therefore proposed for this allele.
在一名健康男性及其母亲以及他两个儿子中的一个儿子的血清中,发现了一种电泳迁移率与C3 F相同的C3低表达变体。这些受试者的血清C3浓度正常,溶血补体水平也正常。对先证者进行的放射性标记纯化C3 FF和C3 SS的代谢研究表明(但未证实),变体C3 F基因合成不足。因此,为该等位基因提议命名为C3 f。