@article{article_397149, title={Analysis of Mutations of Retinitis pigmentosa by Sequencing}, journal={Journal of Applied Biological Sciences}, volume={11}, pages={11–14}, year={2017}, url={https://izlik.org/JA87LD42ZS}, author={Altıntaş, Nuray and Sarıca Yılmaz, Özge and Soylu, Ali and Biçer, İlker}, keywords={RP,DNA Sequencing,ORF15,RPGR,RPE65}, abstract={<p>In our study, we aimed to provide the first source of regional data obtained from molecular investigations by sequencing of selected exons of  <span style="font-size: 0.9em;">RPE65 and RPGR genes in Retinitis pigmentosa (RP) patients in Manisa province. Ethical committee approval was obtained and the study  </span> <span style="font-size: 0.9em;">group consisted of 100 healthy volunteers with no clinical history of RP and RP with approved clinical manifestations in Ophthalmology Clinic  </span> <span style="font-size: 0.9em;">of Manisa State Hospital. DNA samples were analyzed by Sequential Analysis and SeqScape software using ABI Prism 310 Genetic Analyzer  </span> <span style="font-size: 0.9em;">and mutation tables. As a consequence of sequencing the sequence in the RPE65 gene in four patients with RP, two mutations known to be associated  </span> <span style="font-size: 0.9em;">with the RPE65 gene have emerged in the BBS.E352E G> A Glu352Glu (Syn; 1056G> A) and R91Q G> A homozygote mutations were  </span> <span style="font-size: 0.9em;">detected.Two RP patients had Bardet-Biedl syndrome.As a result of the sequence screening gene in RPGR , ORF15+1478 T>A heterozygote  </span> <span style="font-size: 0.9em;">mutation in ORF15 exon of RPGR gene in 2 women patients , ORF15+1643 C>T and ORF15+1677 G>A polymorphisms in ORF15 exon of  </span> <span style="font-size: 0.9em;">RPGR gene in 2 men patients were detected. Our results are originally given as regional first in Manisa and its region. </span> </p>}, number={1}