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

Auler, Kasie; Broock, Robyn; Nyhan, William L

Auler, Kasie; Broock, Robyn; Nyhan, William L.

Afiliación

Auler K; Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.
Broock R; Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.
Nyhan WL; Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.

Curr Protoc Hum Genet ; 86: 17.19.1-17.19.10, 2015 Jul 01.

Article en En | MEDLINE | ID: mdl-26132002

ABSTRACT

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.

Asunto(s)

Adenina Fosforribosiltransferasa/sangre; Pruebas de Enzimas/métodos; Hipoxantina Fosforribosiltransferasa/sangre; Síndrome de Lesch-Nyhan/sangre; Síndrome de Lesch-Nyhan/diagnóstico; Pruebas de Enzimas/normas; Humanos; Control de Calidad

Palabras clave

APRT; HPRT; Lesch-Nyhan syndrome; radiolabeled enzyme assay

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Adenina Fosforribosiltransferasa / Pruebas de Enzimas / Hipoxantina Fosforribosiltransferasa / Síndrome de Lesch-Nyhan Límite: Humans Idioma: En Revista: Curr Protoc Hum Genet Año: 2015 Tipo del documento: Article

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