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人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。一种分光光度测定法的开发及其在突变体形式检测和表征中的应用。

Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms.

作者信息

Keough D T, McConachie L A, Gordon R B, de Jersey J, Emmerson B T

出版信息

Clin Chim Acta. 1987 Mar 30;163(3):301-8. doi: 10.1016/0009-8981(87)90248-8.

DOI:10.1016/0009-8981(87)90248-8
PMID:3581473
Abstract

A simple and rapid spectrophotometric assay for the estimation of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in human tissues is described. It is based on the increase in absorbance at 257.5 nm which occurs when the substrate guanine is converted to its 5'-mononucleotide, GMP. The assay has been developed to measure HGPRT activity in erythrocyte and lymphocyte lysates and in brain homogenates, and has been used in the screening of patients with hyperuricaemia and/or hyperuricosuria for HGPRT deficiency. It has also been used to determine the steady-state kinetic constants of a mutant form of the enzyme. The spectrophotometric assay is compared with the radioactive assay currently used to measure HGPRT activity.

摘要

本文描述了一种用于估算人体组织中次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶(HGPRT)活性的简单快速分光光度测定法。该方法基于当底物鸟嘌呤转化为其5'-单核苷酸GMP时,在257.5 nm处吸光度的增加。此测定法已用于测量红细胞和淋巴细胞裂解物以及脑匀浆中的HGPRT活性,并已用于筛查高尿酸血症和/或高尿酸尿症患者的HGPRT缺乏症。它还被用于测定该酶突变形式的稳态动力学常数。将该分光光度测定法与目前用于测量HGPRT活性的放射性测定法进行了比较。

相似文献

1
Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。一种分光光度测定法的开发及其在突变体形式检测和表征中的应用。
Clin Chim Acta. 1987 Mar 30;163(3):301-8. doi: 10.1016/0009-8981(87)90248-8.
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Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase.
Ciba Found Symp. 1977(48):65-81. doi: 10.1002/9780470720301.ch5.
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Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。痛风患者中一种突变体的特征。
J Clin Invest. 1975 Nov;56(5):1239-49. doi: 10.1172/JCI108200.
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Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
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Human brain hypoxanthine guanine phosphoribosyltransferase: structural and functional comparison with erythrocyte hypoxanthine guanine phosphoribosyltransferase.人脑次黄嘌呤鸟嘌呤磷酸核糖转移酶:与红细胞次黄嘌呤鸟嘌呤磷酸核糖转移酶的结构和功能比较。
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Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.四名痛风相关男性中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏,对磷酸核糖焦磷酸(PP - ribose - P)的亲和力降低。
Hum Genet. 1984;67(1):18-22. doi: 10.1007/BF00270552.
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Hypoxanthine-guanine phosphoribosyltransferase: a simple spectrophotometric assay.
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Hypoxanthine-guanine phosphoribosyltransferase in human erythroid cells: properties of the isozymes.人类红细胞中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶:同工酶的特性
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Unusual substrate specificity of a chimeric hypoxanthine-guanine phosphoribosyltransferase containing segments from the Plasmodium falciparum and human enzymes.一种嵌合次黄嘌呤-鸟嘌呤磷酸核糖转移酶的异常底物特异性,该酶包含恶性疟原虫和人类酶的片段。
Biochem Biophys Res Commun. 2000 Jun 7;272(2):596-602. doi: 10.1006/bbrc.2000.2816.
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[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].[次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的临床谱:12例研究]
Med Clin (Barc). 1994 May 14;102(18):681-7.

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