Background: Somatic mutations in the hotspot region of the DNA-methyltransferase 3A (DNMT3A) gene were recurrently identified in acute myeloid leukemia (AML). It is believed that DNMT3A mutations confer an adverse prognosis for AML patients. These lines of evidence support the need for a rapid and cost-efficient method for the detection of these mutations. The present study aimed to establish h...

background: acute myeloid leukaemia (aml) is a cancer of blood-forming cells in bone marrow. c-kit gene is a receptor tyrosine kinase class iii (rtk) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. it is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely ...

Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...

Background & Aims: Pseudomonas aeruginosa is a gram-negative opportunistic pathogen and one of the mortality causes of nosocomial infections. One of the drug resistance mechanisms in P.aeruginosa is mutation in negative regulator genes of mexAB-oprM efflux pump system such as nalD. The aim of this study was to investigate the role of nalD mutations in P. aeruginosa isolates of Guilan province i...

amyotrophic lateral sclerosis (als) is a progressive neurodegenerative disorder of the motor neurons in the spinal cord, brainstem, and motor cortex. ten percent of als cases are familial with both autosomal dominant and recessive modes of inheritance. mutations in the copper/zinc superoxidedismutase-1 (sod-1) gene, the first gene linked with als, result in sod-1 gene accounting for ~ 20% of fa...

objective macular corneal dystrophy (mcd) is a rare autosomal recessive disorder affecting the stroma of cornea. most cases of mcd are caused by mutations in chst6 gene. the aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (chst6) through genetic analysis of 7 iranian patients with mcd. materials & methods we screened the chst6 gene to determine the range...

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 booroola fecundity gene (fecb) and growth differentiation factor 9 (gdf9) gene belong to the transforming growth factor β (tgf-β) superfamily. the mutations of these genes have additive effects on the prolificacy in sheep. the aim of the present study was to determine the possible mutations of fecb and fecgh genes in lory sheep breed of the lorestan province, iran. sixty blood samples were ...

mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...