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...

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

P53 tumor suppressor gene, also known as “genome guardian” is mutated in more than half of allkind of cancers. In this study we have investigated the controls of environmental pH for P53 genemutation in point of specific sequence which is prone to mutagenesis. The most probable cancerousmutations occur as point mutations in exons 5-8 of P53 gene. The 175th codon of P53 is the thirdmost mutated ...

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...