滤纸血斑中次黄嘌呤磷酸核糖基转移酶（HPRT）和腺嘌呤磷酸核糖基转移酶（APRT）活性的测定
Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
作者信息
Auler Kasie, Broock Robyn, Nyhan William L
机构信息
Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.
出版信息
Curr Protoc Hum Genet. 2015 Jul 1;86:17.19.1-17.19.10. doi: 10.1002/0471142905.hg1719s86.
PMID:26132002
Abstract
Hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is the cause of Lesch-Nyhan disease. Adenine phosphoribosyl-transferase (APRT) deficiency causes renal calculi. The activity of each enzyme is readily determined on spots of whole blood on filter paper. This unit describes a method for detecting deficiencies of HPRT and APRT.
摘要
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏是莱施 - 奈恩病的病因。腺嘌呤磷酸核糖转移酶（APRT）缺乏会导致肾结石。通过滤纸全血斑点可轻松测定每种酶的活性。本单元描述了一种检测HPRT和APRT缺乏的方法。
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