Cavalli-Sforza L L, Daiger S P, Rummel D P
Am J Hum Genet. 1977 Nov;29(6):581-92.
To detect new genetic variation in human plasma proteins, a panel of 63 radioactive substances were screened as potential radioligands using polyacrylamide gel electrophoresis (PAGE) and autoradiography. Vitamins, hormones, drugs, amino acids, purines, pyrimidines, sugars and lipids labeled with 14C or other radionuclides were among those substances tested. A majority bound to albumin and a smaller fraction to prealbumins and lipoproteins. Several vitamins and hormones bound to specific alpha and beta globulins. (1) Electrophoretic polymorphisms of vitamin D-binding protein (group-specific component), a vitamin B12-binding protein (transcobalamin II), and thyroxine-binding alpha-globulin are described elsewhere. (2) Testosterone-binding beta-globulin (TeBG) showed an electrophoretic polymorphism in Caucasians and a possible deficiency allele. (3) Transcortin showed an electrophoretic doublet in all persons tested but no electrophoretic variation. (4) A protein binding derivative of norepinephrine or epinephrine was identified as transferrin. (5) A nonpolymorphic protein running cathodal to albumin and binding a derivative of riboflavin was tentatively identified as a fraction of albumin with mobility altered as a result of interaction with the ligand.
为了检测人类血浆蛋白中的新基因变异,使用聚丙烯酰胺凝胶电泳(PAGE)和放射自显影技术,对一组63种放射性物质作为潜在放射性配体进行了筛选。测试的物质包括用14C或其他放射性核素标记的维生素、激素、药物、氨基酸、嘌呤、嘧啶、糖类和脂质。大多数物质与白蛋白结合,较小一部分与前白蛋白和脂蛋白结合。几种维生素和激素与特定的α和β球蛋白结合。(1)维生素D结合蛋白(群体特异性成分)、维生素B12结合蛋白(转钴胺素II)和甲状腺素结合α球蛋白的电泳多态性在其他地方已有描述。(2)睾酮结合β球蛋白(TeBG)在白种人中表现出电泳多态性以及一个可能的缺失等位基因。(3)皮质类固醇结合球蛋白在所有测试者中均显示出电泳双峰,但无电泳变异。(4)去甲肾上腺素或肾上腺素的一种蛋白结合衍生物被鉴定为转铁蛋白。(5)一种向阴极迁移且与白蛋白相比呈非多态性、并结合核黄素衍生物的蛋白,初步被鉴定为白蛋白的一部分,其迁移率因与配体相互作用而改变。