Molecular analysis of rpe65 gene in charge of pathology of autosomal recessive inherited retinitis pigmentosa

Retinitis pigmentosa which is on of the inherited retinal dystrophies leads to night blindness, progressive loss of peripheral visual field and the complete elimination of central vision at the last stage. Performed fundamental scientific studies in our country are very low than abroad with this disease grup that is clinical and genetically highly heterogeneous. It's very important to evaluate hereditery eye diseases in Turkish patients from molecular aspect, to obtain the genetic informations of our society and in order to establish database. RPE 65 gene which is expressed in the retinal pigment epithelium containing 14 exons cause to autosomal recessive childhood retinal dystrophy (%2) and Leber congenital amaurosis (%16). The aim of this study, screening the 4,5,10,11 and 13th exons that are commonly mutations seen exons at individuals who have autosomal recessive retinitis pigmentosa by DNA sequencing analysis at Manisa province in the Aegean region. In our study, 50 individuals who had autosomal recessive inheritance RP and whose clinical diagnosis were approved in Manisa State Hospital Eye Clinic were consisted the study group between 2010-2013 years. 50 healthy volunteer individuals who had without RP anamnesis and RP diagnostic report were consisted the control group. DNAs which were isolated with DNA isolation kit from blood samples, were amplified with PCR after then were sequenced with ABI Prism 310 Genetic Analyzer instrument. As a result of our study, G>A R91Q heterozygote mutation in Exon 4 of RPE65 gene in 1 individual patient (% 2), G>A E352E polymorphism in Exon 10 of RPE65 gene in 7 individual patients (% 14) were detected. Our results are firstly source which were obtained from Manisa province in the Aegean region.