Journal of Clinical and Experimental Ophthalmology
Open Access

Amina Mama Boubkeur

Publications

• Research Article
  Screening RB1 Gene in Algerian Patients and Predicting the Pathogenicity of Variations by In Silico Analysis
  Author(s): Amina Mama Boubkeur, Lotfi Louhibi, Meriem Abdi, Fatima Zohra Moghtit, Nacera Tabet Aoul, Rym Abderrahmane, Khadija Mahmoudi, Meriem Aberkane and Nadhira Saidi-MehtarAmina Mama Boubkeur, Lotfi Louhibi, Meriem Abdi, Fatima Zohra Moghtit, Nacera Tabet Aoul, Rym Abderrahmane, Khadija Mahmoudi, Meriem Aberkane and Nadhira Saidi-Mehtar
  
  Retinoblastoma is a pediatric retinal tumor initiated by biallelic inactivation of the retinoblastoma gene (RB1). Most of the alteration being unique and randomly distributed throughout the entire coding region. This study aimed firstly to identify mutations that may affect the RB1 gene in constitutional level witch contribute to the understanding of the molecular pathogenesis of this disease and for early detection of subject at risk and asymptomatic carriers. The detection of variations in 30 patient’s DNAs was performed by high performance liquid chromatography (HPLC) followed by sequencing. Secondly, we developed a protocol in silico analysis using different software based on analytic methods (Align GVGD, Mutation tasting, SIFT, PolyPhen, I-Mutant and KD4V) and structural (Swiss-Pdb Viewer). This protocol was used to predict the deleterious effects of mutat.. View More»
  DOI: 10.4172/2155-9570.1000653

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