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...

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...

background and objective: molecular epidemiological studies have shown that certain genotypes of mycobacterium tuberculosis (mtb) are over-represented in limited geographical regions, suggesting of evolution of certain genotypes with increasing virulence and pathogenicity. beijing strain of mtb was initially described by its potential to cause outbreaks worldwide and its association with drug r...

severe  congenital  neutropenia  (scn)  is  a  rare  primary  immunodeficiency   disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr  and  g6pc3.  the  aim  of  this  study  was  to  find  different  gene  mutations responsible for scn in iranian patients. twenty-seven   patients   with   scn  referred   to  immunology,   asthma   and  allergy r...