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 bio...

we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...

mammalian ∆-(1)-pyrroline-5-carboxylate synthase (p5cs) enzyme catalyzes the coupled phosphorylation and reduction-conversion of glutamate to ∆-(1)-pyrroline-5-carboxylate (p5c), a critical step in the proline, ornithine, citrulline and arginine biosynthesis. in plants and mammals, p5cs consists of two separate enzymatic domains: n-terminal γ-glutamyl kinase (γ-gk) and c-terminal γ-glutamyl pho...

background :according to numerous studies, fms-like tyrosine kinase 3, internal tandem duplication, and the d835 mutation are associated with a poor prognostic clinical outcome in acute myeloid leukemia patients. detection of the fms-like tyrosine kinase 3 mutation in patients who present with normal karyotype acute myeloid leukemia helps in both the understanding of the disease and the treatme...

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: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

Background: Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with a high risk of malignancy in childhood. This syndrome is an autosomal dominant cancer predisposing syndrome due to a germline mutation in the TP53 tumor suppressor gene.   Methods: In this study, a representative family case of Li-Fraumeni syndrome is described. The proband of this family ...

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...