patients and methods in this study, 87 specimens from iranian patients were amplified using nested pcr amplification of the ul97 gene. sequence analyses of products were performed for identifying the mutated codons. results the present study show that the most frequent gcv-resistant mutations occurred in codons a594v (26.43%), h520q (18.39%), and m460v (13.79%), consequently occurring at a low ...

introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

Inosine triphosphatase (ITPase) is one of the enzymes involved in thiopurine metabolism. Polymorphisms in the ITPA gene, resulting in a decreased activity of ITPase, are associated with adverse drug reactions during thiopurine therapy. Measuring ITPase activity is therefore of utmost importance. We compared measurement of ITPase activity in fresh erythrocyte lysates and eluates of dried blood s...

Azathioprine (AZA) is frequently used in patients with inflammatory bowel disease (IBD). However, toxic adverse reactions frequently develop and limit the clinical benefits. Currently, the precise mechanisms underlying thiopurine-related toxicity are not well understood. To investigate the relationship between the extent of thiopurine metabolism and adverse reactions in Japanese IBD patients, w...

ITP and dITP exist in all cells. dITP is potentially mutagenic, and the levels of these nucleotides are controlled by inosine triphosphate pyrophosphatase (EC ). Here we report the cloning, expression, and characterization of a 21.5-kDa human inosine triphosphate pyrophosphatase (hITPase), an enzyme whose activity has been reported in many animal tissues and studied in populations but whose pro...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...

after using 3 different generations of antibodies including human and non-human hyperimmune sera, monoclonal antibodies and chimeric antibodies, more recently a newer approach has been developed in which the antibody genes are cloned directly from a patient peripheral b-lymphocytes and expressed in a host like e. coli. in this study the candida albicans serotype a (nctc 3153) mannan was purifie...