background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...

head and neck squamous cell carcinoma, including oral squamous cell carcinoma (oscc) is the sixth most common cancer in the human population. despite significant efforts committed in treatment of oscc the overall survival rate of oscc has not improved significantly. activating mutations in the fibroblast growth factor receptor 3 (fgfr3) genes are responsible for some human cancers, including bl...

T halassemia syndromes are the most prevalent autosomal recessive single gene disorders in Iran.1,2 Interactions of different types of hemoglobinopathies can lead to thalassemia syndromes with a variety of phenotypes that range from asymptomatic to severe anemia. The diversity of thalassemia phenotypes depends on the amount of imbalances created between and non-globin chains.3,4 In normal eryth...

Infertility considered as a multifactorial condition; the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is an imprinted gene. However, abnormal imprinting of this due to methylation may result in function or silencing Main aim study investigate present at promoter and its role risk factor for male infertility. Sixty- three infertile males with age mean (32.28 ± 6.88 years) 13 ferti...

appearance of bacteria resistant to antibacterial agents puts physicians in trouble and threatens the health of the world. the rapid development of bacterial resistance in escherichia coli to ciprofloxacin makes difficult the treatment of infectious diseases. so, detection of the locations of possible mutations in gyrase a gene ( gyra ) in these mutants is very important to determine the mechan...

objective(s): adeno-associated virus type 2 (aav2) vectors are widely used for both experimental and clinical gene therapy. a recent research has shown that the performance of these vectors can be greatly improved by substitution of specific surface-exposed tyrosine residues with phenylalanines. in this study, a fast and simple method is presented to generate aav2 vector helper plasmids encodin...

introduction: the major resistance mechanisms of pseudomonas aeruginosa to fluoroquinolones and carbapenems are associated with the mutations in the genes gyra and oprd encoding type ii topoisomerases (dna gyrase) and oprd porin, respectively. method: in this cross-sectional study, sixty five clinical samples were collected from patients hospitalized in al-zahra hospital of isfahan, iran. susce...

background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...

We systematically compared cytokine-mediated increases or decreases in proliferation with globin gene and protein expression in adult human erythroblasts. Despite their opposite effects on growth, stem cell factor (SCF) and transforming growth factor beta (TGF-B) had synergistic effects with respect to fetal hemoglobin (HbF): average HbF/HbF + adult hemoglobin (HbA) ratio in erythropoietin (EPO...