Fine J M, Marneux M, Rochu D
Am J Hum Genet. 1987 Mar;40(3):278-86.
The relative mobility of albumin and proalbumin genetic variants was estimated by means of cellulose acetate electrophoresis performed with three buffer systems at different pH (8.6, 5.0, and 6.9) after addition of a reference protein and dilution of sera. Numerous experiments using samples of reference variants corroborated the accuracy and reproducibility of this technique. The estimation of the variants' relative mobility at three pH allowed us to distinguish three fast-moving variants (Gent, Vanves, and Reading) and five slow-moving variants (Sondrio, Roma, Christchurch, Lille, and B) in the French population. The frequency of alloalbuminemia in this population is .0004 and is characterized by the high occurrence of albumin B and of the two proalbumin variants, Christchurch and Lille. In order to classify the variants of European origin, the methodology that we developed, owing to its more resolutive possibilities, should be employed as a first step in their identification until establishment of a structural nomenclature making mention of the amino acid substitution characterizing each variant.
在加入参考蛋白并稀释血清后,通过在不同pH值(8.6、5.0和6.9)下使用三种缓冲系统进行醋酸纤维素电泳,估计白蛋白和前白蛋白基因变体的相对迁移率。使用参考变体样本进行的大量实验证实了该技术的准确性和可重复性。在三个pH值下对变体相对迁移率的估计使我们能够在法国人群中区分出三个快速移动的变体(根特、万夫斯和雷丁)和五个缓慢移动的变体(松德里奥、罗马、克赖斯特彻奇、里尔和B)。该人群中同种白蛋白血症的频率为0.0004,其特征是白蛋白B以及前白蛋白变体克赖斯特彻奇和里尔的高发生率。为了对欧洲起源的变体进行分类,由于我们开发的方法具有更强的分辨能力,在建立提及每个变体特征性氨基酸取代的结构命名法之前,应将其作为识别这些变体的第一步采用。