Search for: polymorphism--single-nucleotide
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    Colorimetric assay for exon 7 SMN1/SMN2 single nucleotide polymorphism using gold nanoprobes

    , Article BioImpacts ; Volume 3, Issue 4 , 2013 , Pages 185-194 ; 22285652 (ISSN) Ahmadpour Yazdi, H ; Hormozi Nezhad, M. R ; Abadi, A ; Sanati, M. H ; Kazemi, B ; Sharif University of Technology
    Introduction: Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN). A critical nucleotide difference in SMN2 compared to SMN1 gene leads to an inefficient protein. Hence, homozygous lack of SMN1 provides a progressive disease. Due to the high prevalence, up to now, several molecular diagnostic methods have been used which most of them are lengthy, expensive, and laborious. Methods: In the present study, we exploited a gold nanoprobe-based method for semi-quantitative SMN1 gene dosage analysis compared to SMN2. The assay was... 

    Toward single-DNA electrochemical biosensing by graphene nanowalls

    , Article ACS Nano ; Volume 6, Issue 4 , March , 2012 , Pages 2904-2916 ; 19360851 (ISSN) Akhavan, O ; Ghaderi, E ; Rahighi, R ; Sharif University of Technology
    Graphene oxide nanowalls with extremely sharp edges and preferred vertical orientation were deposited on a graphite electrode by using electrophoretic deposition in an Mg 2+-GO electrolyte. Using differential pulse voltammetry (DPV), reduced graphene nanowalls (RGNWs) were applied for the first time, in developing an ultra-high-resolution electrochemical biosensor for detection of the four bases of DNA (G, A, T, and C) by monitoring the oxidation signals of the individual nucleotide bases. The extremely enhanced electrochemical reactivity of the four free bases of DNA, single-stranded DNA, and double-stranded DNA (dsDNA) at the surface of the RGNW electrode was compared to electrochemical... 

    Application of single-nucleotide polymorphisms in the diagnosis of autism spectrum disorders: a preliminary study with artificial neural networks

    , Article Journal of Molecular Neuroscience ; Volume 68, Issue 4 , 2019 , Pages 515-521 ; 08958696 (ISSN) Ghafouri Fard, S ; Taheri, M ; Omrani, M. D ; Daaee, A ; Mohammad Rahimi, H ; Kazazi, H ; Sharif University of Technology
    Springer New York LLC  2019
    Autism spectrum disorder (ASD) includes different neurodevelopmental disorders characterized by deficits in social communication, and restricted, repetitive patterns of behavior, interests or activities. Based on the importance of early diagnosis for effective therapeutic intervention, several strategies have been employed for detection of the disorder. The artificial neural network (ANN) as a type of machine learning method is a common strategy. In the current study, we extracted genomic data for 487 ASD patients and 455 healthy individuals. All individuals were genotyped in certain single-nucleotide polymorphisms within retinoic acid-related orphan receptor alpha (RORA), gamma-aminobutyric...