Cox D W, Andrews B J, Wills D E
Am J Hum Genet. 1986 May;38(5):699-706.
A genetic polymorphism of the human serum glycoprotein, alpha 2HS-glycoprotein, can be recognized using isoelectric focusing in polyacrylamide, followed by silver-stain immunofixation. In a North American Caucasian population, two common alleles and one rare allele have been recognized, with frequencies as follows: AHSG1: .6419, AHSG2: .3535, and AHSG3: .0046; polymorphism information content (PIC): .36. A black population from various islands of the Caribbean has the two most common alleles, plus a variant (B) not found in the white population. Allele frequencies in the blacks were: AHSG1: .6901, AHSG2: .2606, AHSGB: .0493; PIC: .396. Family studies confirmed the allele designations. Alleles in both populations were in Hardy-Weinberg equilibrium. This polymorphism will be useful as a marker on chromosome 3q and for forensic studies. The serum concentration associated with AHSG1 may be somewhat greater than that associated with AHSG2. Differences between the allele products remained after removal of sialic acid from the glycoprotein with neuraminidase. The silver-stain immunofixation technique used for this polymorphism has wide application for the study of polymorphisms where the protein is present in low concentration or where only low titer antiserum is available.
利用聚丙烯酰胺等电聚焦,随后进行银染免疫固定,可以识别出人类血清糖蛋白α2HS -糖蛋白的一种基因多态性。在北美白种人群体中,已识别出两个常见等位基因和一个罕见等位基因,其频率如下:AHSG1:0.6419,AHSG2:0.3535,AHSG3:0.0046;多态性信息含量(PIC):0.36。来自加勒比海各岛屿的黑人种群有两个最常见的等位基因,外加一个在白种人群体中未发现的变体(B)。黑人中的等位基因频率为:AHSG1:0.6901,AHSG2:0.2606,AHSGB:0.0493;PIC:0.396。家系研究证实了等位基因的命名。两个群体中的等位基因均处于哈迪 - 温伯格平衡。这种多态性将作为3号染色体q臂上的一个标记以及用于法医研究。与AHSG1相关的血清浓度可能略高于与AHSG2相关的血清浓度。用神经氨酸酶从糖蛋白中去除唾液酸后,等位基因产物之间的差异仍然存在。用于这种多态性研究的银染免疫固定技术在研究蛋白质浓度低或仅有低滴度抗血清可用的多态性方面有广泛应用。