Identification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS)

Background and Aims: Human Cytomegalovirus (HCMV) is one of the life-threatening agents in immunosuppressed patients and congenitally infected neonates in the world. Mutations in UL27 were suggested to confer low- to high-grade Maribavir (MBV) resistance. As pUL27 R233S variation may involve in either MBV-resistance, we aimed to establish a method for identifying R233 coding sequence mutation...

objective(s): it has been reported that the mutation of the pre-core (pc) and basal-core promoter (bcp) may play an important role in the development of hbv-related hepatocellular carcinoma (hcc). in this study the pc and bcp mutations were investigated in chronic hbv patients. materials and methods:in this study, 120 chronic hbv patients from golestan, northeast of iran who were not vaccinated...

identification of associated genes with energy balance, yield and feed intake are recent interests of the animal breeding researchers. najdi breed is the famous cattle breed in the khuzestan province. in this research for the investigation of leptin gene promoter ,from 15 najdi cows in the shushtar cattle center station was taken. dna from whole blood was extracted and 544bp and 566 bp two piec...

The ATP synthase in mitochondria was responsible for the synthesis of to provide chemical energy cell achieve metabolism. point mutation at mitochondrial DNA nt 8993(T>C and T>G) disrupted normal cellular mechanism synthase, causing a deficiency production synthesis. 8993 causes replacement leucine amino acid with an arginine(aL156R), changing sequence ATP6 gene, which inefficiency c-subu...

The epidermal growth factor receptor (EGFR) T790M mutation, a missense mutation from CpG cytosine to thymine, in non-small cell lung cancer is drug-resistant induced by the administration of tyrosine kinase inhibitors (TKIs). It important detect this with high sensitivity, as effective therapies have been developed for patients mutation. We confirmed that at point methylated various tissues, an...

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A324...