Association Study of Nephrotic Syndrome in Children With New Variants of Nphs2 Gene

Abstract

This project aimed to screen four variants (SNVs) which were previously identified in the promoter region of the gene NPHS2 in children with nephrotic syndrome, in controls without renal disease. Therefore, we used two different methods after DNA extraction: polymerase chain reaction (PCR) with subsequent sequencing by Sanger method and real time PCR with TaqMan allelic discrimination kit. Only one of the controls presented the c.-268C>G SNV in heterozygosis confirming the rarity of these SNVs .