Initial Results in Genotyping of 6 Exons of NPHS2 Gene in Pediatric Patients with Nephrotic Syndrome

Abstract

NPHS2 is gene coding for podocin protein that plays an important role in nephrotic syndrome. Many studies showed NPHS2 causing early onset and not responding to standard steroid treatment in pediatric patients with nephrotic syndrome. In this study, we established the genotyping method of 6 exons of  NPHS2 in pediatric patient blood samples collecting in National Pediatric Hospital. Blood samples was extracted DNA and amplified wanted gene by PCR. Different PCR conditions was tested, then optimal PCR product was sequenced. From sequencing results, 251 SNPs from 6 exons was detected including 7 SNPs with various polymorphism; 2 new SNPs in exon 2 and exon 3.  In conclusion, we were successfully establishing the genotyping method of all 6 exons of NPHS2 in one PCR procedure and got some first results that would be useful for our next clinical study on Vietnamese pediatric patients with nephrotic syndrome.

Keywords

NPHS2, podocin, nephrotic syndrome

References

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