Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...

Background and Aims: lamivudine is amongst the antiviral for drug chronic hepatitis B treatment. During therapy with lamivudine, variants may emerge with YMDD mutation in the reverse transcriptase (RT) region of polymerase gene. This mutation might have a role in drug resistant for HBV. Materials and Methods: HBV DNA extraction from serum sample of 88 patients, were subjected to nested PCR for ...

background and aims: lamivudine is amongst the antiviral for drug chronic hepatitis b treatment. during therapy with lamivudine, variants may emerge with ymdd mutation in the reverse transcriptase (rt) region of polymerase gene. this mutation might have a role in drug resistant for hbv. materials and methods: hbv dna extraction from serum sample of 88 patients, were subjected to nested pcr for ...

background: varicocele is associated with the failure of ipsilateral testicular growth and development, and the symptoms of pain and reduced fertility. the highly condensed structure of the sperm nuclear chromatin is provided by proper expression of transition nuclear protein (tnp) genes, so any dysregulational expression of these genes results in abnormal spermatogenesis and infertility. objec...

Background: Cholestatic disorders are divided in the extra and intra-hepatic that created due to the severe liver diseases. ABCB11 encodes the bile salt export pump and this gene is mutated in several forms of intrahepatic cholestasis. So far, some molecular features of this gene was studies.Objective: Using a developed web server, we identified high number of rare codons in this gene, and four...

chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

objectives: familial adenomatous polyposis (fap) is an autosomal dominant predisposition to colon cancer. this hereditary genetic disease is characterized by more than 100 adenomatous polyps in colon and rectum. additional features may include desmoids tumors, polyps in the upper gastrointestinal tract, osteomas and congenital hypertrophy of the retinal pigment epithelium (chrpe). a mutation in...