Pakistan Journal of Biological Sciences1028-88801812-5735Asian Network for Scientific Information10.3923/pjbs.2021.492.499PAX2 Gene Polymorphism in Primary Vesicoureteral Reflux Patients in Taif Governorate, KSA]]>I. El-HallousEhab AlharthiAbdulla A. GaberAhmed M. HassanMohamed 42021244Background and Objective: Primary Nonsyndromic Vesicoureteral Reflux (PVUR) is a widespread genetic malformation and considered a prevalent Congenital Abnormality of the Kidney and Urinary Tract (CAKUT). Mutations in the PAX2 gene have been associated with abnormalities in the kidney extending from CAKUT to oncogenic processes. The present study analyzes the PAX2 polymorphisms and their association with primary VUR in Saudi children patients from the Taif governorate. Materials and Methods: Fifteen children with primary VUR were identified and screened for gene mutations in the PAX2 gene by direct sequencing method of purified Polymerase Chain Reaction (PCR) products of all exons to elucidate the correlation between PAX2 gene and VUR. Results: Seven new variants have been defined. Three polymorphic missense variants in homozygous genotype form were found in intron 8 and detected in eight patients, One missense mutation was found in exon 10 in the site of transactivation domain and detected in ten patients and in-silico analysis predicted it as a pathogenic one, Three mutations were found in exon 11 and detected in all patients as a compound homozygous. Conclusion:PAX2is important for normal kidney development and mutations in the gene possibly lead to disturbance in the protein structure and could be non-functional thus mutations in PAX2 may be one of the causes of PVUR in Saudi Arabia. Further investigation is necessary to understand the aetiology of disease and maybe other genes implicated in VUR.]]>Schedl, A.,20078791802Uetani, N. and M. Bouchard,200975307317Ismaili, K., M. Hall, A. Piepsz, K.M. Wissing, F. Collier, C. Schulman and F.E. Avni,2006148222227Williams, G., J.T. Fletcher, S.I. Alexander and J.C. Craig,200819847862Capitanucci, M., M. Silveri, G. Mosiello, A. Zaccara, N. Capozza and M. de Gennaro,200010172176Lebowitz, R.L., H. Olbing, K.V. Parkkulainen, J.M. Smellie and T.E. Tamminen-Möbius,198515105109Garcia-Roig, M., C. Travers, C.E. McCracken and A.J. Kirsch,2018199287293Chandra, M. and H. Maddix,2000136754759Jiang, S., J. Gitlin, F.M. Deng, F.X. Liang and A. Lee et al.,2004661019Noe, H.N., R.J. Wyatt, J.N. Peeden and M.L. Rivas,199214818691871Nicolaou, N., K.Y. Renkema, E.M.H.F. Bongers, R.H. Giles and N.V.A.M. Knoers,201511720731Nino, F., M. Ilari, C. Noviello, L. Santoro, I.M. Ratsch, A. Martino and G. Cobellis,2016177079Lee, K.H., H.Y. Gee and J.I. Shin,201758S4S13Alharthi, A., E. EL-Hallous, M. AboKhatwa, A. Almalki, A. Gaber and M. Hassan,201820445450Chand, D.H., T. Rhoades, S.A. Poe, S. Kraus and C.F. Strife,200317015481550Ichikawa, I., F. Kuwayama, J.C. Pope, F.D. Stephens and Y. Miyazaki,200261889898Dressler, G.R. and A.S. Woolf,199943463468Eccles, M.R., S. He, M. Legge, R. Kumar and J. Fox et al.,200246535544Narahara, K., E. Baker, S. Ito, Y. Yokoyama and S. Yu et al.,199734213216Sanyanusin, P., L.A. Schimmenti, L.A. McNoe, T.A. Ward and M.E.M. Pierpont et al.,19959358364Eberhard, D., G. Jiménez, B. Heavey and M. Busslinger,20001922922303Fortin, A.S., D.A. Underhill and P. Gros,19982645744581Bower M., R. Salomon, J. Allanson, C. Antignac and F. Benedicenti et al.,201233457466Dörfler, P. and M. Busslinger,19961519711982Negrisolo, S., E. Benetti, S. Centi, M.D. Vella and G. Ghirardo et al.,201180581585Boualia, S.K., Y. Gaitan, I. Murawski, R. Nadon, I.R. Gupta and M. Bouchard,20112011de Miranda, D.M., A.C.S. dos Santos Júnior, G.S. dos Reis, I.S. Freitas and T.G.R. Carvalho et al.,201418451457George, A.L. and E.G. Neilson,200035S160S169El Mouzan, M.I., A.A. Al Salloum, A.S. Al Herbish, M.M. Qurachi and A.A. Al Omar,200828169173Mattoo, T.K.,19989105109Mohrij, O.A.A., A.A.A. Zaben and R.S. Al,19967301304Al-Ibrahim, A.A., R.D. Girdharilal, M.A. Jalal, A.H. Alghamdy and Y.K. Ghazal,2002132428Kari, J.A.,20128217221Cunliffe, H.E., L.A. McNoe, T.A. Ward, K. Devriendt, H.G. Brunner and M.R. Eccles,199835806812Alharthi, A.A., E.I. El-Hallous, I.M. Talaat, H.A. Alghamdi, M.I. Almalki and A. Gaber,201760327332Adzhubei, I., D.M. Jordan and S.R. Sunyaev,2013767.20.17.20.41Kari, J., S. El-Desoky, F. Basnawi and O. Bahrawi,20135232236Torres, M., E. Gomez-Pardo, G.R. Dressler and P. Gruss, 199512140574065Brophy, P.D., L. Ostrom, K.M. Lang and G.R. Dressler,200112847474756Paces-Fessy, M., M. Fabre, C. Lesaulnier and S. Cereghini,20122131433155Freund, C., D.J. Horsford and R.R. McInnes,1996514711488Harshman, L.A. and P.D. Brophy,20122712651275Eccles, M.R., L.A. Schimmenti,19995619Okumura, T., K. Furuichi, T. Higashide, M. Sakurai and S.I. Hashimoto et al.,20152015Nishimoto, K., K. Iijima, T. Shirakawa, K. Kitagawa, K. Satomura, H. Nakamura and N. Yoshikawa,20011217691772Zhang, L., S.B. Zhai, L.Y. Zhao, Y. Zhang, B.C. Sun and Q.S. Ma,20182018Zheng, Y., J. Xu, W. Guo, H. Xu, J. Chen, Q. Shen, X. Zhang and Y. Zhai,201546963970Yang, Y., C. Jeanpierre, G.R. Dressler, M. Lacoste, P. Niaudet and M.C. Gubler,1999154181192Salomon, R., A.L. Tellier, T. Attie-Bitach, J. Amiel and M. Vekemans et al.,200159457462Keller, S.A., J.M. Jones, A. Boyle, L.L. Barrow and P.D. Killen et al.,199423309320Porteous, S.,2000PAX2 mutations: Evidence of increased apoptosis in fetal kidneys of Pax21Neu +/- mutant mice.]]>9111Lechner, M.S. and G.R. Dressler,19962712108821093Berget, S.M.,199527024112414Quinlan, J., M. Lemire, T. Hudson, H. Qu and A. Benjamin et al.,20071819151921