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白蛋白帕克兰德的分子异常:365位天冬氨酸替换为组氨酸。

The molecular abnormality of albumin Parklands: 365 Asp----His.

作者信息

Brennan S O

出版信息

Biochim Biophys Acta. 1985 Aug 23;830(3):320-4. doi: 10.1016/0167-4838(85)90289-4.

Abstract

An electrophoretically slow albumin variant was isolated from the plasma of a patient with bisalbuminemia. Reverse-phase peptide mapping revealed a single altered peak when tryptic digests of the normal and variant albumin were compared. After rechromatography and amino acid analysis, a sequence/composition of Cys-Cys-Ala-Ala-Ala-His-Pro,His,Glu,Cys,Tyr,Ala,Lys was obtained for the mutant peptide, while a sequence of Cys-Cys-Ala-Ala-Ala-Asp-Pro-His-Glu-Cys-Tyr,Ala,Lys was obtained for the normal peptide. This establishes the mutation as 365 Asp----His and the new albumin has been named albumin Parklands. Interestingly, this mutation results in the loss of the single Asp-Pro bond that is normally present between residues 365 and 366. Predictably, this confers on albumin Parklands a greater resistance to partial acid hydrolysis, a feature which, when employed together with SDS-gel electrophoresis, can be used as a diagnostic test for the presence of this variant.

摘要

从一名双白蛋白血症患者的血浆中分离出一种电泳迁移率较慢的白蛋白变体。反相肽图谱显示,当比较正常白蛋白和变体白蛋白的胰蛋白酶消化产物时,有一个单一的改变峰。经过再色谱分析和氨基酸分析,得到突变肽的序列/组成为半胱氨酸-半胱氨酸-丙氨酸-丙氨酸-丙氨酸-组氨酸-脯氨酸、组氨酸、谷氨酸、半胱氨酸、酪氨酸、丙氨酸、赖氨酸,而正常肽的序列为半胱氨酸-半胱氨酸-丙氨酸-丙氨酸-丙氨酸-天冬氨酸-脯氨酸-组氨酸-谷氨酸-半胱氨酸-酪氨酸、丙氨酸、赖氨酸。这确定该突变为365位天冬氨酸突变为组氨酸,新的白蛋白被命名为帕克兰兹白蛋白。有趣的是,这种突变导致通常存在于365和366位残基之间的单个天冬氨酸-脯氨酸键缺失。可以预见,这赋予帕克兰兹白蛋白对部分酸水解更大的抗性,这一特性与SDS-凝胶电泳一起使用时,可作为检测这种变体存在的诊断试验。

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