objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...

objective: to determine the frequency of dyt1 mutation in iranian patients affected with primary dystonia. materials and methods: in this study, we investigated 60 patients with primary dystonia who referred to the tehran medical genetics laboratory (tmgl) to determine the deletional mutation of 904-906 del gag in the dyt1 gene. dna extracted from patients’ peripheral blood was subjected to pcr...

background kras and braf gene mutations are considered as key events in carcinogenesis progression of colorectal cancer. given the importance of these gene mutations evaluations, especially in metastatic patients, in terms of determination of therapeutic strategies, we studied the prevalence of kras and braf mutations in tabriz city.   materials and methods deoxyribonucleic acid (dna) extracted...

CF is an autosomal recessive disease, requiring mutations to be present in both alleles the transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation not registered “CFTR2 project” database, but it Human Gene Mutation Database. Neither are two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) found "CFTR Project”, their clinical conseque...

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...

p53 tumor suppressor gene, also known as “genome guardian” is mutated in more than half of allkind of cancers. in this study we have investigated the controls of environmental ph for p53 genemutation in point of specific sequence which is prone to mutagenesis. the most probable cancerousmutations occur as point mutations in exons 5-8 of p53 gene. the 175th codon of p53 is the thirdmost mutated ...

background and aim: jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (g6pd) deficiency, some mutation types of which may be associated with severe neonatal icter. in this line, the present study has been conducted to compare g6pd mutations in incteric and non icteric neonates. materials and methods: this case-control study was impleme...