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本文介绍人血清白蛋白(HSA)基因位于4号染色体(4q11-13),初级翻译产物含有由18个残基组成的信号肽和6个残基组成的原肽,正常血浆存在的成熟 HSA 为由685个残基组成的单纯蛋白质,含17个二硫键,使整个肽链折叠成3个相似的区域,每个区域又由3个相似的环组成。HSA 分子中只有1个游离的硫氢基和1个色氨酸残基。HSA 除具有维持血管内胶体渗透压的主要生理功能外,尚能与铜离子、半胱氨酸、胆红索、维生素 B6、长链饱和脂肪酸和药物结合,这些物质与 HSA 分子中不同的部位结合后在血浆中进行运输。HSA 分子结构发生遗传变异时,其电荷亦随之改变,电泳时可呈双白蛋白区带(杂合子),现已报道 HSA 的这种变异体约有50种,弄清了结构变异的已有12种.近年来还报道了一种获得性原白蛋白血症。本文对 HSA 结构变异与疾病的可能关系作了初步探讨。
This article describes the human serum albumin (HSA) gene is located on chromosome 4 (4q11-13), the primary translation product contains a signal peptide consisting of 18 residues and 6 residues of the original peptide, the normal plasma is the existence of mature HSA A simple protein consisting of 685 residues, containing 17 disulfide bonds, folded the entire peptide chain into three similar regions, each of which consisted of three similar loops. There is only one free sulfhydryl group and one tryptophan residue in the HSA molecule. In addition to HSA has the main physiological function of maintaining intravascular colloid osmotic pressure, but also with copper ions, cysteine, bilirubin, vitamin B6, long-chain saturated fatty acids and drugs, these substances and HSA molecules in different parts After binding in the plasma for transport. HSA molecular structure of genetic variation, the charge also will change, the electrophoresis can be presented as double albumin band (heterozygous), it has been reported HSA about 50 variants of this, to clarify the structural variation has been There are 12 species in recent years also reported an acquired albuminmia. This article made a preliminary discussion on the possible relationship between HSA structure variation and disease.