Measurement of Erythrocyte Inosine Triphosphate Pyrophosphohydrolase (ITPA) Activity by HPLC and Correlation of ITPA Genotype-Phenotype in a Caucasian Population | Zendy

Maria Shipkova | Zendy; Kristin Lorenz | Zendy; Michael Oellerich | Zendy; Eberhard Wieland | Zendy; Nicolas von Ahsen | Zendy

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Measurement of Erythrocyte Inosine Triphosphate Pyrophosphohydrolase (ITPA) Activity by HPLC and Correlation of ITPA Genotype-Phenotype in a Caucasian Population

Author(s) -

Maria Shipkova,

Kristin Lorenz,

Michael Oellerich,

Eberhard Wieland,

Nicolas von Ahsen

Publication year - 2005

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2005.059501

Subject(s) - itpa , inosine monophosphate , inosine , chemistry , nucleotide , genotype , biochemistry , enzyme , population , microbiology and biotechnology , biology , medicine , gene , environmental health , ribavirin

Inosine triphosphate (ITP) pyrophosphohydrolase (ITPA) catalyzes the pyrophosphohydrolysis of ITP/dITP and xanthosine triphosphate to prevent incorporation of unusual nucleotides into RNA and DNA. Important mutations leading to enzyme deficiency are 94C>A and IVS2 + 21A>C. An association between ITPA 94C>A and adverse reactions during azathioprine treatment has been shown. To investigate the ITPA phenotype, an HPLC procedure was developed and phenotype-genotype correlations were assessed.

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