in india, holstein and its crosses are being used extensively in breeding programmes and all these breeding bulls are screened for autosomal recessive genes. blood samples are collected in ethylenediaminetetraacetic acid (edta) coated tubes and dna was isolated by using phenol-chloroform method. polymerase chain reaction restriction fragment length polymorphism (pcr-rflp) wereperformed by using...

zebra fish were exposed to environmentally relevant concentration of pesticides and metals fora period of 14 days. the individual and the combined toxicity of pesticides and metals were studied. damage caused to the dna and induction of mutation in the gadd45β gene was investigated in this study. the present investigation revealed that exposure of zebra fish to pesticides and metals induced dna...

the aim of this study was to investigate the frequency, location and type of rpob gene mutations in mycobacterium tuberculosis (mtb) collected from patients in the southern endemic region of iran. drug susceptibility testing was determined by using the bactec system and the center for diseases control’s (cdc) standard conventional proportional method. in 29 rifampicin-resistant mtb (85%) isolat...

conclusions detection and surveillance of the significant sites of mutations in hbv is crucial for clinicians to decide on the choice of antiviral treatment and further management of hepatitis b carriers. objectives this study was carried out to detect mutations in p gene of hepatitis b virus isolated from malaysian hbv carriers. materials and methods a total of 58 sera samples were analyzed by...

objective(s) p53 is an important tumor suppressor, which is mutated in later stages of many cancers and leads to resistance to chemotherapy. the aim of this study was to reveal mutations of tp53 in colorectal cancer in kerman province. materials and methods a total of forty-three colon cancer specimens as paraffin block or fresh tissues, which passed stage iiia, were selected. three exons 5, 7 ...

objective(s) the mitochondrial defects in friedreich's ataxia have been reported in many researches. mitochondrial dna is one of the candidates for defects in mitochondrion, and complex i is the first and one of the largest catalytic complexes of oxidative phosphorylation (oxphos) system. materials and methods we searched the mitochondrial nd4l gene for mutations by ttge and sequencing on ...

how to cite this article: heidari mm, khatami m, houshmand m, mahmoudi e, nafissi sh .increased prevalence 12308 a > g mutation in mitochondrialtrnaleu (cun) gene associated with earlier age of onset in friedreich ataxia. iranian journal of child neurology 2011;5(4):25-31. objective friedreich ataxia (frda) is an inherited recessive disorder. mitochondrial dna is a candidate modifying factor fo...

farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). characteristics are early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement in affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. thre...

how to cite this article: tavasoli ar, rostami p, ashrafi mr, karimzadeh p. neurological and vascular manifestations of ethylmalonic encephalopathy. iran j child neurol. spring 2017; 11(2):57-60.   abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, a...