MOLECULAR SCREENING OF ROBO GENE IN PRIMARY VESICOURETERAL REFLUX PATIENTS IN TAIF REGION, KSAA.A. ALHARTHI, E.I. EL-HALLOUS, M.W. ABUKHATWAH, A.M. ALMALKI, A. GABER AND M.M. HASSANAbstract Primary non syndromic vesicoureteral reflux (VUR) is considered as a common congenital anomalies of the kidney and urinary tract (CAKUT). Sequences of the ROBO2 gene were investigated in children with primary VUR for variations. Direct sequencing, was used to screen fifteen Saudi children with primary VUR from Taif governorate. One single missense polymorphic variant was detected in heterozygous genotype form c.468 T>A, p.P176P. This variant was located in ex on 3 in four patients 4/15 (26%), three girls (3/5) and one boy (1/10). The prevalence of this variant was higher in girls than in boys, all of these patients have severe grade V primary VUR and associated with UTI. This variant did not cause change in the amino acid level and therefore it is not predicted to cause any protein structure modifications and thus non-significance to VUR. ROBO2 variant was not found to be associated with non syndromic primary VUR, providing further evidence for genetic heterogeneity. Further investigation is needed to understand the etiology of disease and may be other genes involved in VUR.
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