glucose-6-phosphate dehydrogenase (g6pd) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. it is also characterized by remarkable molecular and biochemical heterogeneity. according to previous investigations, g6pd cosenza (g1376c) is a common g6pd mutation in some parts of iran. therefore in the present...

abstract objective: detection of p53 gene mutation on its codon 248 between iranian women with breast cancer by pcr-rflp. material and methods: dna extraction of tumor tissues was performed in 53 patients with primary breast cancer. designing primer for the sub-studying codon was performed with nti-vector software and detection of codon 248 mutation was done by msp i pcr_rflp. results: the soma...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

background: ghezel sheep are highly prolific and one of the local sheep breeds in iran and turkey. growth differentiation factor-9 (gdf9) gene has been found to be essential for growth and differentiation of early ovarian follicles. novel mutations in gdf9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. therefore, fecundity gene for gdf9 (fecg...

Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...

  Tuberculosis is a serious global public health problem and its high prevalence is stron gly associated with the enhancement of drug resistance. In this study we demonstrate a multiplex allele-specific polymerase chain reaction (MAS)-PCR assay to simultaneously detect mutations in the first and third bases of the embB gene codon 306 ATG in ethambutol (EMB) resistant isolates of Mycobacterium t...

head and neck squamous cell carcinoma, including oral squamous cell carcinoma (oscc) is the sixth most common cancer in the human population. despite significant efforts committed in treatment of oscc the overall survival rate of oscc has not improved significantly. activating mutations in the fibroblast growth factor receptor 3 (fgfr3) genes are responsible for some human cancers, including bl...

purpose: to determine the association between norrie disease (nd) gene mutations and advanced stages of retinopathy of prematurity (rop) in premature neonates who were referred to farabi eye hospital, tehran, iran during 2005-2007. methods: fifty infants including 28 male and 22 female subjects with rop stage 3 or worse were enrolled in this case series. all three exons of nd gene underwent pol...

introduction: mucopolysaccharidosis i (mps-i) is an autosomal recessive lysosomal storage diseases, caused by α-l-iduronidase (idua) enzyme deficiency. the clinical manifestations of mps-i patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. from when idua gene has been cloned more than 109 distinct mutations have been identified in it an...

conclusions: premature stop codon in the s gene was observed in all countries with evaluable hbv genome sequences. co-existence of detectable hepatitis b surface antigen (hbsag) and s gene premature stop codon was inconsistent with other studies. investigations on yield truncated hbsag are suggested to determine if they can affect elisa hbsag results. background: we have previously reported on ...