Genotyping Of Crb1 And Rp1 Genes In Families With Visual Impairment (Retinitis Pigmentosa)

Abstract

Almost 285 million individuals suffer from vision impairment worldwide in which 90% live in underdeveloped
countries. A total of 150 mutations and 60 genes have been associated to Retinitis Pigmentosa. In the current study,
two families with Retinitis Pigmentosa were identified in Kohat, Khyber Pakhtunkhwa, Pakistan. The pedigree
analysis indicated an autosomal recessive pattern of Retinitis Pigmentosa inheritance. The non-syndromic nature of
Retinitis Pigmentosa was confirmed by clinical evaluation of affected members by an eye specialist. Homozygosity
mapping was used to analyze the linkage of two families, RP1 and RP2. The microsatellite markers D1S2816,
D1S2840, D1S1183, D1S1660, D1S158, D1S422, D1S412, D1S413, D8S532, D8S260, and D8S509 were chosen for linkage analysis in the RP1 and RP2 families. Affected members of the RP1 family (III.1, III.2, III.3, and III.4)
demonstrated homozygosity at the D8S260 marker. Individuals from the RP2 family that were impaired (III.3 and
III.4) showed homozygosity at marker D1S1660. The CRB1 locus was used to confirm family linkage in RP1, while the
RP1 locus was used to confirm family linkage in RP2. Haplotyping confirmed the allelic pattern in RP1 and RP2
families. Protein-protein interactions were investigated using the Stitch 5 database, and the closest functional
partner was discovered. The one closest to CRB1 has a maximum interaction score of 0. 978.The interaction of a
mutant protein with other proteins and how it affects the pathway can be predicted by applying this research study.
This research could aid in prenatal diagnostics and gene therapy for linked diseases in the future.