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Online Journal of Bioinformatics©
Volume 23 (1):85-92, 2022.
Naureen Aslam Khattak¹, Sana Elahi², Asif Mir3 , Nadia Latif4 , Muhammad Ismail5
¹Univeristy Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah, Arid Agriculture University, Rawalpindi, ²Kinnaird College For Women, Lahore, 3'4 International Islamic university, Islamabad, 5Institute of Biomedical and Genetic Engineering division, Islamabad, 44000, Pakistan
Khattak NA, Elahi S, Mir A, Latif N, Ismail M., In silico autosomal recessive cone rod dystrophy, Onl J Bioinform., 23 (1):85-92, 2022. Cone Rod Dystrophy, (CORD8) is an inherited progressive disease that causes degeneration of cones and rod photoreceptor cells of retina, leading to blindness. CORD8 is characterized by loss of color vision, severe photophobia, and epiphora since childhood. We describe in silico candidate genes for autosomal recessive cone-rod dystrophy mapped at 1q23-q24 locus. We used PROSPECTR, Suspect, Endeavour, Gene wanderer, and Gene to disease (G2D) to isolate DDR2, ATP1A4, B4GALT3. ATF6, and IGFS8 genes as likely involved. The final genes were selected by mutation of CORD8, mapped on chromosome 1q23-q24 with linkage interval of 11.3 cM with 5.9 MB linked region.
Keywords : CORD8, Cone-rod dystrophies, Candidate gene analysis, In silico analysis, Retinal disorders, Gene prediction.