Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital scree...

Chitosan-graft-polyethylenimine (CHI-g-PEI) copolymer has been used for theimprovement of low transfection efficiency of chitosan. The present study aims to test thepulmonary toxicity and efficiency of CHI-g-PEI as an aerosol gene carrier. Mice were exposedto aerosol containing green-fluorescent protein (GFP)-polyethylenimine (PEI) or GFP-CHIg-PEI complexes for 30 min during the development of ...

Objective(s): Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. However, to date there is no reliable information on the application of the markers in the Iranian pop...

Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...

mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...

background: wilson disease (wd) is caused by numerous pathogenic mutations of the atp7b gene. there are several mutation screening methods that can be used for the diagnosis and carrier detection of wd, however such methods are costly and time-consuming. therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. objective: to report common polymorphisms...

Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin  haemoglobin[T2]  H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hem...

mutations in the dystrophin gene cause duchenne muscular dystrophy (dmd), the most commonly inherited neuromuscular disorder, and becker muscular dystrophy (bmd), the milder allelic form of the disease. the mutation spectrum within this gene is unusual in that deletion of one or more exons are found in ~65% of cases. since no effective treatment is so far available for these diseases, the ident...