Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.

Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
Curr Protoc Hum Genet. 2015;86:17.19.1-17.19.10
Authors: Auler K, Broock R, Nyhan WL
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. © 2015 by John Wiley & Sons, Inc.
PMID: 26132002 [PubMed - in process]

Source: Current Protocols in Human Genetics - July 5, 2015 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research