results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...

abstract        background and objective: chabahar is in southern iran located near the iran-pakistan border. since leishmaniasis is an emerging disease in this region, this study aimed to diagnose the disease and identify different species of leishmania parasite in the patients referred to the central laboratory.       methods: this descriptive cross-sectional study was conducted in 2011-2012 ...

background and objective: the outcome of hepatitis b virus (hbv) infection may be influenced by host factors like human leukocyte antigen (hla). we have investigated hla-a and drb1 alleles in patients with persistent hepatitis b infection compared to subjects who had spontaneously recovered from hbv infection. to complete the findings of this study we performed another survey in certain hla all...

background: toxoplasmosis is one of the most important food-borne diseases distributed worldwide. in order to determinate the involvement of poultry meat in clinical toxoplasmosis, this study aimed to genetic characterization of toxoplasma gondii in tissue samples of serologically positive chickens of tunisia using polymerase chain reaction (pcr). methods: trail of isolation of local t. gondii ...

background: cytochrome p450 2c19 (cyp2c19) is important in metabolism of wide range of drugs. cyp2c19*17 is a novel variant allele which increases gene transcription and therefore results in ultra-rapid metabolizer phenotype (urm). distribution of this variant allele has not been well studied worldwide. the aim of present study was to investigate allele and genotype frequencies of cyp2c19*17 in...

High-level induction of fetal ( ) globin gene expression for therapy of -hemoglobinopathies likely requires local chromatin modification and dissociation of repressor complexes for -globin promoter activation. A novel -globin– inducing short-chain fatty acid derivative (SCFAD), RB7, which was identified through computational modeling, produced a 6-fold induction in a reporter assay that detects...

Designer nucleases are broadly applied to induce site-specific DNA double-strand breaks (DSB) in genomic DNA. These are repaired by nonhomologous end joining leading to insertions or deletions (in/dels) at the respective DNA-locus. To detect in/del mutations, the heteroduplex based T7-endonuclease I -assay is widely used. However, it only provides semi-quantitative evidence regarding the number...

Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. Methods: A six-year-old boy from Khuzestan Province and his par...

results the results showed that nl1-gc/ls2 primer set could yield species-specific amplicons, which were well distinguished and allowed better species discrimination than that generated by the its3-gc/its4 primer set, in both dgge and ttge profiles. all five candida species were discriminated by dgge and ttge using the nl1-gc/ls2 primer set. conclusions comparison of dgge and ttge profiles obta...

The aim of this study was to determine the frequency of enterotoxigenic and enteroaggregative strains ofEscherichia coli in chicken carcasses by polymerase chain reaction (PCR). In this study 63 strains of E. coliwere isolated from 110 samples of chicken carcasses during processing after chilling in the poultry slaughterhouse of Shahrekord. Polymerase chain reaction assays were used to detect t...