Kragh-Hansen Ulrich
Aarhus Universitet, Institut for Medicinsk Biokemi, Arhus C.
Ugeskr Laeger. 2008 May 5;170(19):1638-43.
Persons with human serum albumin and a genetic variant are relatively common, whereas variant homozygotes are rare. About 65 structurally different variants are known. There is no clear relationship between bisalbuminemia and disease, and therefore isoforms are detected either because of a very pronounced increase in ligand binding or because of a modified electrophoretic mobility. The latter albumins may have modified binding and/or immunological properties. Analbuminemia is a rare but relative benign, homozygote condition in which especially the lipid metabolism is affected.
携带人血清白蛋白和基因变体的人相对常见,而变体纯合子则很罕见。已知约有65种结构不同的变体。双白蛋白血症与疾病之间没有明确的关系,因此检测到异构体要么是因为配体结合显著增加,要么是因为电泳迁移率改变。后一种白蛋白可能具有改变的结合和/或免疫特性。无白蛋白血症是一种罕见但相对良性的纯合子病症,其中尤其脂质代谢受到影响。