Kühnl P, Spielmann W
Hum Genet. 1978 Jul 12;43(1):91-5. doi: 10.1007/BF00396483.
Evidence is presented for an extended polymorphism of human transferrin (Tf). Three common phenotypes were observed among TfC individuals after isoelectric focusing of sera on polyacrylamide gels. They are explained in terms of two subtypes of the TfC allele, tentatively designated TfC1 and TfC2. The distribution of the phenotypes Tf C1, C2-1, and C2 provides a good fit to the Hardy-Weinberg equation. In our population sample (n = 942) the following frequencies were calculated: TfC1 = 0.8195, TfC2 = 0.1720, TfB2 = 0.0064, TfB1-2 = 0.0016, and TfD1 = 0.0005. Family studies (n = 112) indicate an autosomal codominant way of inheritance. The observed subheterogeneity is detectable in purified transferrin after isofocusing and subsequent immunofixation. The subtypes are still present after treatment of sera with neuraminidase.
有证据表明人类转铁蛋白（Tf）存在扩展多态性。血清在聚丙烯酰胺凝胶上进行等电聚焦后，在TfC个体中观察到三种常见表型。它们可以用TfC等位基因的两个亚型来解释，暂定为TfC1和TfC2。Tf C1、C2 - 1和C2表型的分布很好地符合哈迪 - 温伯格方程。在我们的人群样本（n = 942）中计算出以下频率：TfC1 = 0.8195，TfC2 = 0.1720，TfB2 = 0.0064，TfB1 - 2 = 0.0016，TfD1 = 0.0005。家系研究（n = 112）表明其遗传方式为常染色体共显性。在等聚焦和随后的免疫固定后，在纯化的转铁蛋白中可检测到观察到的亚异质性。用神经氨酸酶处理血清后，亚型仍然存在。
