Open AccessEstablishing the Genotyping of NPHS2 Polymorphisms in Patients with Primary Nephrotic Syndrome
Author(s) -
Pham Thi Hong Nhung,
Vu Van Nga,
Nguyen Thi Thuy Linh,
Do The Hoanh,
Phạm Văn Đếm,
Đinh Đoàn Long,
Vu Thi Thom
Publication year - 2017
Publication title -
tạp chí khoa học đại học quốc gia hà nội: khoa học y dược (vnu journal of science: medical and pharmaceutical sciences)
Language(s) - English
Resource type - Journals
eISSN - 2615-9309
pISSN - 2588-1132
DOI - 10.25073/2588-1132/vnumps.4066
Subject(s) - genotyping , nephrotic syndrome , podocin , sanger sequencing , polymerase chain reaction , genetics , exon , genotype , medicine , gene , biology , immunology , dna sequencing , kidney , proteinuria , podocyte
Podocin protein is encoded by the NPHS2 gene is largely responsible for resistance to corticosteroid in pharmacological treatment of nephrotic syndrome. Therefore, we have constructed the genotyping test of NPHS2 polymorphisms on 149 pediatric patients with primary nephrotic syndrome. Main methods consisted of DNA extraction from peripheral blood samples, polymerase chain reaction (PCR) and Sanger sequencing. In my study, 251 SNPs from 6 exons and 2 new mutations have detected by genotyping test. These results will provide helpful tool and data for further research to determine the role of NPHS2 polymorphisms with corticosteroid response in the treatment of nephrotic syndrome.