نتایج جستجو برای: mutation detection method
تعداد نتایج: 2333870 فیلتر نتایج به سال:
Abstract Background & Aims:BRAF-V600E mutation has recently been considered as a molecular marker in diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E mutation detection with other previous methods in diagnosis of HCL patients. Materials & M...
hemophilia b is factor ix deficiency and is inherited as x-linked recessive disorder. the subject of carrier detection in hemophilias has received new impetus in the last several years. analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and hemophilia b carrier detection, if the identification of the gene mutation is possible. allele frequencies of t...
bacground: wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. the disorder is caused by mutations in the atp7b gene, encoding a copper transporting p-type atpase. characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families.materials and methods: we en...
fluorescence chemical sensors for the highly sensitive and selective determination of pb2+ , hg2+, co2+ and fe3+ ions in aqueous solutions are described. the ion sensing system was prepared by incorporating lipophilic ligand (l) as a neutral ion-selective fluoroionophore in the plasticized pvc membrane containing sodium tetraphenylborate or potasium tetrakis (p-chlorophenyl) borate as a liphoph...
Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...
hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported. the aim of this study was to...
Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...
background: tuberculosis is one of the infectious diseases worldwide that has resurgence by the aids epidemic and led to the rise of drug-resistant tuberculosis patients. thus, it seems essential to monitor the drug susceptibility in tuberculosis patients. the new high resolution melting (hrm) method is simple, rapid and inexpensive for detection of the mutations responsible for drug resistance...
a novel silver (ag) nanocomposite electrode was proposed that fabricated from metal nanostructures and ionic liquids. the combined application of unique properties of nanomaterials and ionic liquids in the design of this ag nanocomposite results in electrodes with interesting advantages compared to the conventional metal disk electrode. in the first part of this thesis, the elecrocatalytic eff...
background and objectives: resistance in mycobacterium tuberculosis is caused by mutations in genes encoding drug targets. investigators have already demonstrated the existence of mutations in codons 88 to 94 in the gyra gene and also in codons 1400, 1401, and 1483 of rrs gene among extensively and extremely drug resistant tuberculosis (xdr & xxdr-tb) strains. the aim of this study was to ident...
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