in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

   Background & Objective:  Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study ...

Background and Aims: One of the most important genes involved in Alzheimer's disease (AD) is the presenilin2 (PSEN2) gene, which is one of the main constituents of the gamma-secretase complex. Mutations in this gene promote the formation of amyloid plaques resulting in AD. The study aimed to evaluate the mutation variant in exon 6 of the PSEN2 gene in patients with Late-Onset AD (LOAD). Due to ...

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...