the miru-vntr polymorphism and katg463 mutation are used to genotype the mycobacterium tuberculosis, but the correlation between them and inh-resistance were unknown. this study was aimed to explore whether etre polymorphism and katg463 mutation could predict the inh-resistance, and the relationship between etre polymorphism and katg463 mutation.the etre, katg463 mutation and drug resistance in...

background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...

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...

background gastrointestinal stromal tumors (gists) are potentially malignant tumors; however their behavior and response to treatment is dependent on the type of mutation and immunohistochemical expression of antigens. it is recommended to perform routine molecular and immunohistochemical tests in kit and platelet derived growth factor receptor alpha (pdgfra) molecules for making decision regar...

conclusions the mutation ratio difference between genotypes b and c in children was higher than that of adults and several combined mutations were exclusively detected in children with chronic hbv genotype c infection associated with higher viral load. objectives the aim of this study was to assess the mutation profiles of bcp and precore regions in different hbv genotypes in chronically infect...

Background and Objective: Epidermal growth factor receptor (EGFR) gene mutation, especially in exons 18 to 21, is an important predictor of the response rate of lung adenocarcinoma to tyrosine kinase inhibitors. There are variable reports from Asian and European countries, as well as North America, about the frequency of the EGFR mutation in lung adenocarcinoma, yet molecular s...

Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...

hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...