A key enzyme involved in the production of potentially carcinogenic estrogen metabolites and the activation of environmental carcinogens is cytochrome P450 1B1 (CYP1B1), the predominant member of the CYP1 family expressed in normal breast tissue and breast cancer. Because of the preeminent role of CYP1B1 in mammary estrogen/carcinogen metabolism, we examined the CYP1B1 gene to determine whether...

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...

Exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD or dioxin) results in a broad spectrum of biological responses, including altered metabolism, disruption of normal hormone signaling pathways, reproductive and developmental effects, and cancer. Cytochrome P450 1B1 (CYP1B1) is a dioxin-inducible gene that is active in the formation of 4-hydroxyestradiol, a potentially genotoxic catechol estr...

objectiveglutaric aciduria type 1 (gal 1) is a cerebral organic academia, which manifests as encephalopathy with long-term neurological handicap. in this study, clinical presentation, neuroimaging, molecular finding of cgdh mutation of our patients were reviewed.materials and methodsthis was a descriptive and cross-sectional study. patients in whom gla1 were suspected by clinical manifestation,...

desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...

background: congenital adrenal hyperplasia (cah, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. more than 95% of cases of cah are caused by 21-hydroxylase deficiency (21-ohd). females with severe, classic 21-ohd are exposed to excess androgens prenatally and are born with virilized external genitalia. most pati...

background: haemophilia a (ha) is an x-linked bleeding disorder caused by the absence or reduced activity of coagulation factor viii (fviii). coagulation factors are a group of related proteins that are essential for the formation of blood clots. the aim of this study was to genotype the coagulation factor viii gene mutations using inverse shifting pcr (is-pcr) in an iranian family with severe ...

mutations in the gjb2 gene are the most common known cause of hereditary congenital hearing loss. rapid genomic dna extraction (rgde) method was used for genomic dna extraction. after amplification of coding region of cx26 gene with specific primers, expected pcr products with 724bp length were subjected to direct sequencing in both directions. we describe here a novel heterozygous -t to -c tra...

background: colorectal cancer (crc) is a common and lethal malignancy worldwide. the incident rate of crc is different in various geographica regions. crc is a multifactorial disease; the factors involved included dietary and genetic factors. p53 gene is the most important tumor suppressor gene which involved in many cancers. the mutation rate in exons 7 and 8 of p53 gene in crc was reported to...