Nuray ALTINTAŞ, Özge SARICA YILMAZ, Ali SOYLU, İlker BİÇER

Analysis of Mutations of Retinitis pigmentosa by Sequencing

In our study, we aimed to provide the first source of regional data obtained from molecular investigations by sequencing of selected exons of RPE65 and RPGR genes in Retinitis pigmentosa (RP) patients in Manisa province. Ethical committee approval was obtained and the study group consisted of 100 healthy volunteers with no clinical history of RP and RP with approved clinical manifestations in Ophthalmology Clinic of Manisa State Hospital. DNA samples were analyzed by Sequential Analysis and SeqScape software using ABI Prism 310 Genetic Analyzer 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 with the RPE65 gene have emerged in the BBS.E352E G> A Glu352Glu (Syn; 1056G> A) and R91Q G> A homozygote mutations were detected.Two RP patients had Bardet-Biedl syndrome.As a result of the sequence screening gene in RPGR , ORF15+1478 T>A heterozygote 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 RPGR gene in 2 men patients were detected. Our results are originally given as regional first in Manisa and its region.

Keywords:

RP DNA Sequencing, ORF15, RPGR, RPE65,

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