Mutations in the promoter of telomerase reverse transcriptase (TERT) gene have been described as most common hot-spot mutations different solid tumors. High frequencies TERT reported to occur tumors arising tissues with low rates self-renewal. For cutaneous vascular tumors, prevalence has not yet investigated larger mixed cohorts. With targeted next-generation sequencing (NGS), we screened for ...

colorectal cancer (crc) is one of the most common cancers worldwide. understanding of the tumor behavior, in a much closer look, at the molecular level, results in a more effective treatment and accurate prognosis of the disease. from among various genes altered in colorectal cancer k-ras is assumed to be of diagnostic and prognostic significance. k-ras mutations are believed to be a critical e...

abstract   objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...

background: to assess whether the c677t and a1298c mutations in the methylenetetrahydrofolate reductase (mther) gene are associated with recurrent abortion (ra), we determined the frequencies of the t677 and c1298 mutations in patients and controls. materials and methods: mutations were determined by a rflp-pcr method in 53 patients and 61 matched controls. results: the frequencies of t alleles...

abstract background thalassemia is common in the iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. the molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly locat...

conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...

background: colorectal cancer (crc) is a common and lethal malignancy worldwide. the incident rate of crc is different in various geographica regions. crc is a multifactorial disease; the factors involved included dietary and genetic factors. p53 gene is the most important tumor suppressor gene which involved in many cancers. the mutation rate in exons 7 and 8 of p53 gene in crc was reported to...

conclusions detection of drug resistance associated with mutations through real-time pcr by melting analysis technique showed a high differentiating power. this technique had high concordance with the standard proportion test and mas-pcr results. patients and methods in a cross-sectional study carried out in 2014, 90 patients with m. tuberculosis from five border provinces of iran were selected...

introduction: hearing loss is the most common sensory defect in humans, affecting approximately 1 in 1000 neonates in which genetic factors are involved in more than 50%. connexin 26 or gjb2 gene mutations are responsible for half of autosomal recessive non-syndromic hearing losses. the purpose of this study was to determine the gjb2 mutations frequency in autosomal recessive non-syndromic deaf...