Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...

This research explores the concept of vicarious observational learning as a component of an experiential learning sequence. We compare measures of task performance when participants observe a task before engaging in direct experience versus immediate direct experience without observation. Two experimental studies were conducted using different types of tasks and different levels of performance ...

this study pursued the molecular identification of fish species from processed products for human consumption which, a priori, belonged to nine species. dna barcoding using direct sequencing of about 650 bp of the mitochondrial gene cytochrome oxidase subunit i (coi) revealed incorrect labeling in the three alaska pollack samples (11% of all samples). substitution of fish species constitutes se...

Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...

BACKGROUND Although epidermal growth factor receptor (EGFR) inhibitor treatment showed modest response in several clinical trials in esophageal squamous cell carcinoma (ESCC) patients, it has been reported that the frequency of EGFR mutations varied largely. The aim of this study was to investigate the existence of EGFR mutations in Chinese esophageal squamous cell carcinomas. METHODS Formali...

BACKGROUND Despite considerable advances, DNA sequencing has remained somewhat time-consuming and expensive, requiring three separate steps to generate sequencing products from a template: amplification of the target sequence; purification of the amplified product; and a sequencing reaction. Our aim was to develop a method to routinely combine PCR amplification and cycle sequencing into one sin...

Helicos Single-Molecule Sequencing provides a unique view of genome biology through direct sequencing of cellular and extracellular nucleic acids in an unbiased manner, providing both quantitation and sequence information. Using a simple sample preparation, involving no ligation or amplification, genomic DNA is sheared, tailed with poly-A and hybridized to the flow-cell surface containing oligo...

Large-scale genomics projects are identifying biomarkers to detect human disease. B. pseudomallei and B. mallei are two closely related select agents that cause melioidosis and glanders. Accurate characterization of metagenomic samples is dependent on accurate measurements of genetic variation between isolates with resolution down to strain level. Often single biomarker sensitivity is augmented...

The polymerase chain reaction (PCR) has made possible the rapid isolation and amplification of specific DNA segments, which can then be used for a wide range of applications (1). Direct sequencing of PCR products has been described, using assymetric PCR, which requires purification of the PCR product, or inclusion of 10% DMSO in the sequencing reaction (2, 3, 4). However, these methods of seque...