objective(s): non-syndromic sensorineural hearing loss (nshl) is a common disorder affecting approximately 1 in 500 newborns. this type of hearing loss is extremely heterogeneous and includes over 100 loci. mutations in the gjb2 gene have been implicated in about half of autosomal recessive nshl (arnshl) cases, making this the most common cause of arnshl. for the latter form of deafness, most f...

phenylketonuria (pku) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (pah) gene. pku has wide allelic heterogeneity. here we report a novel heterozygous substitution (c.1223g>t (p.arg408leu)) in the pah gene in an iranian pku family. the patient was 19-yr-old female with diagnosis of moderate...

objective: this study was designed to investigate rbc indices and hba2 levels in parents of major beta-thalassemia patients to detect possible silent beta- thalassemia carriers and examine its potential impact on the premarital genetic counseling. materials and methods: this cross sectional study was performed at children medical center from 2004 to 2006. after genetic counseling and getting in...

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 ...

Objective(s):  Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...

the main objective for plant breeding is to increase genetic diversity. mutation induction is a method to increase genetic diversity associated with selection, recombination, or a combination of these approaches in plant breeding. the present research was aimed to compare efficacy of different doses of gamma rays (150, 200, 250, 300 and 350 gy and zero dose control) on the sesame morphological ...

objective: jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems that occur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. it is suggested that race plays an important role in the prevalence of hyperbilirubinemia. it is a common problem in iran that worries both parents and pediatricians. it has been found that a mutation in the ugt...

objective(s):  denaturing high performance liquid chromatography (dhplc) is a high throughput approach for screening dna sequence variations. to assess oven calibration, cartridge performance, buffer composition and stability, the wave low and high range mutation standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. the purpose of this study was to provi...

Background & Objective: FLT3-ITD mutation detection has been an integral part of diagnostic work ups focused on acute myeloid leukemia. However, some studies have indicated that the mutation is unstable during the various stages of the disease. The purpose of this study was to evaluate the stability of this marker in paired diagnosis-relapse samples using Delta-PCR method. Materials & Methods:...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...