hearing loss (hl) is the most common sensory defect. various genetic as well as environmental factors have been shown to contribute in it. more than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (arnshl). here, we report a 6-year old female patient with bilateral pre-lingual hl in whom a mutation has been identified in triobp gene (c.6362c>t, s2121l). in s...

objective mustard gas (mg) is a poisoning chemical, mutagenic and carcinogenic alkylating agent. it is used during world war i and also iran-iraq conflict. the p53 tumor suppressor gene is involved in the pathogenesis of malignant disease. the aim of this study is to determine possible mutation in p53 gene of lung sample from mustard gas exposed patients. material and methods twelve lung biopsy...

introduction: the myeloproliferative neoplasms (mpns) are a heterogeneous group of diseases characterized by excessive production of blood cells by  hematopoietic precursors. typically, they include polycythemia vera (pv), essential thrombocythemia (et), idiopathic myelofibrosis(imf), and chronic myeloid leukemia (cml). philadelphia chromosome is the final diagnostic test for cml. recently, jak...

Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...

conclusions our study showed a significant association between h63d and c282y mutations and the risk of type 2 diabetes in iranian population. background type 2 diabetes (t2d) is a common metabolic disease caused by insulin secretion defects, which is associated with a variety of complications such as retinopathy, nephropathy, and neuropathy. objectives regarding the relationship between type 2...

abstract β-thalassemia major (β –tm) is the most common thalassemia severe phenotype among iranians. in recent years, molecular understanding of pathogenesis of β –tm has provided a great opportunity regarding diagnostic issues. creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –tm and effective prenatal diagnosis (pnd) molecular screening tests. despit...

background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

staphylococcus aureus carrying pvl gene remain major health problem associated with highly virulent infections. characterization of such gene is important to know the impact and the functional significance of nucleotide variations. pcr and standard sequencing were performed for twelve sudanese strains from different sources. protein structures prediction, modeling and physiochemical analysis we...

objective(s): epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. in dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type vii collagen protein which produce anchoring fibrils. type vii ...

objective(s): phospholipase c ζ (plcζ) is considered as a nominee for sperm associated oocyte activating factors and is located back-to-back with capza3, an actin-capping protein controlling actin polymerization during spermiogenesis. they contain a common bidirectional promoter. the objective of this study was to identify individuals with parallel low expression of plcζ and capza3 mrna, in hop...