DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency
نویسندگان
چکیده
منابع مشابه
P-241: Association of ITPA Polymorphisms rs1127354 with Infertility
Background: Infertility is a relatively common problem that affects couples worldwide. It is estimated that approximately 1 in 6 couples will experience difficulties in reproducing, defined as a failure to conceive after two years of unprotected sexual intercourse. The molecular and genetic factors underlying the cause of infertility remain largely undiscovered. ITPA is an inosine triphosphatas...
متن کاملPharmacogenetic significance of inosine triphosphatase.
Inosine triphosphatase (ITPase) is the enzyme that catalyzes the conversion of inosine triphosphate (ITP) and deoxy-inosine triphosphate (dITP) to inosine monophosphate and deoxy-inosine monophosphate, respectively, thereby maintaining low intracellular concentrations of ITP and dITP. Individuals deficient in ITPase activity were first recognized over 30 years ago. For decades, no clinical sign...
متن کاملThe effect of ITPA polymorphisms on the enzyme kinetic properties of human erythrocyte inosine triphosphatase toward its substrates ITP and 6-Thio-ITP.
The role of inosine triphosphatase (ITPase) in adverse drug reactions associated with thiopurine therapy is still under heavy debate. Surprisingly, little is known about the way thiopurines are handled by ITPase. We studied the effect of ITPA polymorphisms on the handling of inosine triphosphate (ITP) and thioinosine triphosphate (TITP) to gain more insight into this phenomenon. Human erythrocy...
متن کاملMeasurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population.
BACKGROUND 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 investi...
متن کاملDeoxyinosine triphosphate induces MLH1/PMS2- and p53-dependent cell growth arrest and DNA instability in mammalian cells
Deoxyinosine (dI) occurs in DNA either by oxidative deamination of a previously incorporated deoxyadenosine residue or by misincorporation of deoxyinosine triphosphate (dITP) from the nucleotide pool during replication. To exclude dITP from the pool, mammals possess specific hydrolysing enzymes, such as inosine triphosphatase (ITPA). Previous studies have shown that deficiency in ITPA results i...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2002
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380200095