objective: jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems that occur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. it is suggested that race plays an important role in the prevalence of hyperbilirubinemia. it is a common problem in iran that worries both parents and pediatricians. it has been found that a mutation in the ugt...

background: there are no data on the frequency and biochemical expression of the hemochromatosis associated mutations, c282y and h63d, in iranian adult population. this is the first study among iranians that may advocate a screening program. materials and methods: we investigated the frequency of the c282y/h63d hfe gene mutations in a group of 1029 randomly selected iranian blood donors as well...

conclusions we concluded from the results that the frequency of emb-resistant m. tuberculosis cases in iran is lower than that of many other regions. the pcr-sscp technique can separate resistant isolates from sensitive isolates. the sequencing results of this study showed mutation in codons 309 and 299 of the embb gene. in none of the resistant isolates, mutation was observed in codon 306. fur...

background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...

objectives and background: mutation directed inactivation of the tumor suppressor gene p53 have been found incountries with high frequency for hepatocellular carcinomas (hccs). our goal in the present study was screening of the p53 gene in tumor tissues from hcc affected individuals in southwest iran for putative mutations in exons 7 and 8 that are known as hot spot regions. materials & met...

background: we aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (sct) and α thal /β thal mutations in south and south central of iran. method: we employed a pcr and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. all subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain ...

wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. inactivation of the atp7b gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. nowadays, up to 500 mutat...

The genes encoding the NADH dehydrogenase subunits of respiratory complex I have not been identified so far in the mitochondrial DNA (mtDNA) of yeasts. In the linear mtDNA of Candida parapsilosis, we found six new open reading frames whose sequences were unambiguously homologous to those of the genes known to code for NADH dehydrogenase subunit proteins of different organisms, i.e., ND1, ND2, N...