TY - JOUR AU - Nhung, Pham Thi Hong AU - Giao, Tran Vu Quynh AU - Nga, Vu Van AU - Dem`, Pham Van AU - Mau, Nguyen Thi Thuy AU - Long, Dinh Doan AU - Thom, Vu Thi PY - 2017 TI - Initial Results in Genotyping of 6 Exons of NPHS2 Gene in Pediatric Patients with Nephrotic Syndrome JF - VNU Journal of Science: Medical and Pharmaceutical Sciences; Vol 33 No 1 DO - 10.25073/2588-1132/vnumps.4071 KW - N2 - 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 [1] Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Mutations in NPHS2 in sporadic steroid resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant, (2005) 20:902-8. [2] Otukesh H, Otukesh S, Mojtahedzadeh M, Hoseini R, Fereshtehnejad SM, Riahi FA, Management and outcome of steroid-resistant nephrotic syndrome in children, IJKD, (2009) 3:210-7. [3] Cho YH, Lee HJ, Choi JH, Lee HB, Ha SH, Choi Y, WT1 and NPHS2 mutations in Korean children with steroid resistant nephrotic syndrome. Pediatr Nephrol, (2008) 23:63-70. [4] Franceschini N, North KE, Kopp JB, Mckenzie L, Winkler C, NPHS2 gene, nephritic syndrome and focal segmental glomerulosclerosis: a huge review, Genetics in Medicine, (2006) 8:63-75. [5] Caridi G, Perfumo F, Ghiggeri GM, NPHS2 (podocin) mutations in nephrotic syndrome, Clinical Spectrum and Fine Mechanism, Pediatric Research, (2005) 57:54R-61R. [6] Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C, NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid resistant nephritic syndrome, Nature genetics, (2000) 24:349-354. [7] Frishberg Y, Megged O, Shapira E, Feinstein S, Raas-Rothschild A, Mutations in NPHS2 encoding podocin are a prevalent cause of steroid resistant nephritic syndrome among Israeli-Arab children, J Am Soc Nephrol, (2002) 13(2): 400-405. [8] Berdeli A, Yavascan O, Serdaroqlu E, Bak M, Aksu N, Oner A, Anarat A, Donmez O, Yildiz N, Sever L, Tabel Y, Dusunsel R, Sonmez F, Cakar N, NPHS2 (podocin) mutations in Turkish children with idiopathic nephritic syndrome, Pediatr Nephrol, (2007) 22: 2031-2040 [9] Basiratnia M, Torabinezhad S, Erjaee A, NPHS2 gene in Steroid resistant nephritic syndrome. Prevelance, clinical course, and mutational spectrum in South West Iranian children, IJKD, (2013) 7: 357-362. [10] Otukesh H, Fereshtehnejad SM, Bakhshayesh M, Hashemi M, Hoseini R, Chalian M, Salami A, Mehdipor L, Rahiminia A, NPHS2 Mutations in Children with Steroid-Resistant Nephrotic syndrome, Iranian Journal of Kidney Diseases, (2009) 3: 99-102. [11] Fotouhi N, Bonyadi MJ, Abdolmohammadi R, Kamalifar A, Nasri H, Einollahi B, R229Q polymorphism of NPHS2 gene in patients with late-onset steroid resistance nephritic syndrome. A Preliminary study, IJKD, (2013) 7: 399-403. [12] Karle SM, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A, Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome, J Am Soc Nephrol, (2002) 13: 388-393. UR - https://js.vnu.edu.vn/MPS/article/view/4071