how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

background: for screening sequence variations in genes, rapid turnover time is of fundamental importance. while, many of the current methods are unfortunately time consuming and technically difficult to implement. denaturing high-performance liquid chromatography (dhplc) method had been shown to be a high-throughput, time saving, and economical tool for mutation screening. objective: in the pre...

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...

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...

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...