β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...

background and objective: mmp enzymes are a family of membrane proteins that are capable of digesting extracellular matrix compounds (ecm) and basement membrane. matrilysin enzyme is the smallest member of mmp family that is encoded by mmp-7 gene (matrilysin). according to the reports, g allele of -181 a/g single nucleotide polymorphism of mmp-7 gene causes an increase in the expression of this...

background congenital factor xiii (fxiii) deficiency is a rare severs autosomal recessive bleeding disorder. objectives the aim of the study was to determine the c559t > c fxiiia genotype frequency in patients with fxiii hemophilia who lived in sistan and balouchestan province in southeast of iran. patients and methods we determined the genotype of 180 patients with factor xiii hemophilia by te...

background myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. in addition to jak2v617f mutation, several mutations in the c-mpl gene were described in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. the aim of present study was to investigate the frequ...

introduction: osteoprotegerin (opg), a soluble decoy receptor secreted by osteoblasts, binds rank-l, preventing stimulation of osteoclastogenesis. in the present study we aimed to investigate the impact of opg variants and susceptibility to childhood acute lymphocytic leukemia (all) in a sample of iranian population. methods: this case-control study was done on 98 all and 124 healthy children. ...

BACKGROUND Warfarin is the most commonly prescribed oral anticoagulant medication but also is the second leading cause of emergency room visits for adverse drug reactions. Genetic testing for warfarin sensitivity may reduce hospitalization rates, but prospective genotyping is impeded in part by the turnaround time and costs of genotyping. Microfluidics-based assays can reduce reagent consumptio...

BACKGROUND Rh isoimmunization and hemolytic disease of the newborn still occur despite the availability of Rh immunoglobulin. For the prenatal investigation of sensitized RhD-negative pregnant women, determination of the zygosity of the RhD-positive father has important implications. The currently available molecular methods for RhD zygosity assessment, in general, are technically demanding and...