一项针对患有神经疾病的成人和儿童红细胞中磷酸核糖焦磷酸合成酶活性的高效液相色谱联用检测法。

An HPLC-linked assay of phosphoribosylpyrophosphate synthetase activity in the erythrocytes of adults and children with neurological disorders.

作者信息

Micheli V, Rocchigiani M, Pompucci G

机构信息

Dipartimento di Biologia Molecolare, Università di Siena, Italy.

出版信息

Clin Chim Acta. 1994 Jun;227(1-2):79-86. doi: 10.1016/0009-8981(94)90137-6.

DOI:10.1016/0009-8981(94)90137-6

PMID:7955424

Abstract

A two-step non-radioactive method that uses reverse-phase high-performance liquid chromatography (RP-HPLC) is described for the determination of phosphoribosylpyrophosphate synthetase (EC 2.7.6.1) activity in human erythrocytes. The method is accurate and easily reproducible in different chromatographic systems; it is based on the quantification of phosphoribosylpyrophosphate by conversion into orotidine monophosphate and uridine monophosphate. Phosphoribosylpyrophosphate synthetase activity was determined in the erythrocytes of healthy adults and children, the latter showing significantly higher activity than the former. The enzyme activity assayed in children with different neurological disorders was significantly lower in patients with Rett syndrome than in control children or in autistic or mentally retarded patients.

摘要

本文描述了一种采用反相高效液相色谱法（RP-HPLC）的两步非放射性方法，用于测定人红细胞中的磷酸核糖焦磷酸合成酶（EC 2.7.6.1）活性。该方法在不同的色谱系统中准确且易于重现；它基于通过转化为乳清苷单磷酸和尿苷单磷酸来定量磷酸核糖焦磷酸。在健康成人和儿童的红细胞中测定了磷酸核糖焦磷酸合成酶活性，结果显示儿童的活性显著高于成人。在患有不同神经疾病的儿童中进行检测，发现患有雷特综合征的患者的酶活性显著低于对照儿童或自闭症或智力迟钝患者。