ASSAY OF HYPOXANTHINE-GUANINE AND ADENINE PHOSPHORIBOSYL TRANSFERASES . A SIMPLE SCREENING TEST FOR LESCH-NYHAN SYNDROME AND RELATED DISORDERS OF PURINE METABOLISM

被引：56

作者：

BAKAY, B

TELFER, MA

NYHAN, WL

机构：

[1] Department of Pediatrics, University of Miami School of Medicine, Miami

[2] Department of Biochemistry, University of Miami School of Medicine, Miami

[3] Department of Pediatrics, University of California School of Medicine, San Diego, La Jolla

来源：

BIOCHEMICAL MEDICINE | 1969年 / 3卷 / 03期

关键词：

D O I：

10.1016/0006-2944(69)90022-2

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A novel procedure has been developed for the assay of hypoxanthineguanine phosphoribosyl transferase (EC2.4.2.8.) and adenine phosphoribosyl transferase (EC2.4.2.7.). The assay is based on the precipitation by lanthanum chloride of 14C-labeled IMP, GMP, and AMP, the nucleotide products generated in the reaction. The activity of the enzyme can be determined through the assay of the 14C content of either the residual substrate in the supernatant fluid or of the lanthanum nucleomonophosphate in the precipitate. The determination of enzyme activity can be carried out on whole blood or on blood dried on filter paper. The assay is suitable for the screening diagnosis of disorders of purine metabolism and also for quantitative determination of enzyme activity. © 1970.

引用

页码：230 / &