ASSOCIATION STUDY OF NEPHROTIC SYNDROME IN CHILDREN WITH NEW VARIANTS OF NPHS2 GENE
Author(s) -
Bárbara de Freitas Carli,
Mara Sanches Guaragna,
Maricilda Palandi de Mello
Publication year - 2016
Publication title -
anais do congresso de iniciação científica da unicamp
Language(s) - English
Resource type - Conference proceedings
ISSN - 2447-5114
DOI - 10.19146/pibic-2016-50605
Subject(s) - nephrotic syndrome , association (psychology) , gene , medicine , genetics , biology , psychology , psychotherapist
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 .
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