Analysis of Mutations of Retinitis pigmentosa by Sequencing

Nuray Altıntaş [1] , Özge Sarıca Yılmaz [2] , Ali Soylu [3] , İlker Biçer [4]

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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.

RP, DNA Sequencing, ORF15, RPGR, RPE65
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Yazar: Nuray Altıntaş (Sorumlu Yazar)

Yazar: Özge Sarıca Yılmaz

Yazar: Ali Soylu

Yazar: İlker Biçer

Bibtex @araştırma makalesi { jabs397149, journal = {Journal of Applied Biological Sciences}, issn = {}, eissn = {2146-0108}, address = {Nobel Bilim ve Araştırma Merkezi Limited}, year = {}, volume = {}, pages = {11 - 14}, doi = {}, title = {Analysis of Mutations of Retinitis pigmentosa by Sequencing}, key = {cite}, author = {Biçer, İlker and Sarıca Yılmaz, Özge and Altıntaş, Nuray and Soylu, Ali} }
APA Altıntaş, N , Sarıca Yılmaz, Ö , Soylu, A , Biçer, İ . (). Analysis of Mutations of Retinitis pigmentosa by Sequencing. Journal of Applied Biological Sciences, (1), 11-14. Retrieved from http://dergipark.gov.tr/jabs/issue/34958/397149
MLA Altıntaş, N , Sarıca Yılmaz, Ö , Soylu, A , Biçer, İ . "Analysis of Mutations of Retinitis pigmentosa by Sequencing". Journal of Applied Biological Sciences (): 11-14 <http://dergipark.gov.tr/jabs/issue/34958/397149>
Chicago Altıntaş, N , Sarıca Yılmaz, Ö , Soylu, A , Biçer, İ . "Analysis of Mutations of Retinitis pigmentosa by Sequencing". Journal of Applied Biological Sciences (): 11-14
RIS TY - JOUR T1 - Analysis of Mutations of Retinitis pigmentosa by Sequencing AU - Nuray Altıntaş , Özge Sarıca Yılmaz , Ali Soylu , İlker Biçer Y1 - 2019 PY - 2019 N1 - DO - T2 - Journal of Applied Biological Sciences JF - Journal JO - JOR SP - 11 EP - 14 VL - IS - 1 SN - -2146-0108 M3 - UR - Y2 - 2019 ER -
EndNote %0 Journal of Applied Biological Sciences Analysis of Mutations of Retinitis pigmentosa by Sequencing %A Nuray Altıntaş , Özge Sarıca Yılmaz , Ali Soylu , İlker Biçer %T Analysis of Mutations of Retinitis pigmentosa by Sequencing %D 2019 %J Journal of Applied Biological Sciences %P -2146-0108 %V %N 1 %R %U
ISNAD Altıntaş, Nuray , Sarıca Yılmaz, Özge , Soylu, Ali , Biçer, İlker . "Analysis of Mutations of Retinitis pigmentosa by Sequencing". Journal of Applied Biological Sciences / 1 11-14.