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OJBTM
Online Journal of Bioinformatics©
Established
1995
ISSN 1443-2250
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
ABSTRACT
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.