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人血清白蛋白基因变异体的快速检测与初步鉴定

Rapid detection and initial characterization of genetic variants of human serum albumin.

作者信息

Sheat J M, Peach R J, George P M

机构信息

Department of Clinical Biochemistry, Christchurch Hospital, New Zealand.

出版信息

Clin Chem. 1991 Jul;37(7):1221-4.

PMID:1855293
Abstract

We have studied the detection and classification of genetic variants of human serum albumin by electrophoresis. Samples from 10 patients who were heterozygous for eight different albumin variants were studied by two methods. In agarose gel electrophoresis, each of these variants has an abnormal mobility and can be classified on the basis that structural changes at the N-terminus abolish 63Ni binding. In sodium dodecyl sulfate-polyacrylamide gel electrophoresis of whole serum, glycosylated variants are easily detected because of their greater apparent molecular mass.

摘要

我们通过电泳研究了人血清白蛋白基因变体的检测和分类。采用两种方法对10名携带8种不同白蛋白变体的杂合子患者的样本进行了研究。在琼脂糖凝胶电泳中,这些变体中的每一种都具有异常迁移率,并且可以根据N端的结构变化消除63Ni结合这一依据进行分类。在全血清的十二烷基硫酸钠-聚丙烯酰胺凝胶电泳中,糖基化变体因其更大的表观分子量而易于检测。

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