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《Journal of Applied Clinical Pediatrics》 2012-23
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NPHS2 Polymorphism Variation in Children with Steroid-Resistant Nephrotic Syndrome

YU Ping1,ZHANG Yao2,LU Wan-wei1,HAO Zhi-hong2,YU Li2 (1.Department of Pediatrics,Conghua Central Hospital,Conghua 510900,Guangdong Province,China;2.Department of Pediatrics,Guangzhou First Municipal People′s Hospital,Guangzhou 510180,Guangdong Province,China)  
Objective To examine mutation of NPHS2 gene in 30 sporadic Chinese children with steroid-resistant nephrotic syndrome(SRNS),and to investigate the possible role of NPHS2 gene in SRNS. Methods Thirty eligible patients(19 male,11 female)and 20 healthy children were included in this study.Genomic DNA was directly isolated from peripheral blood samples,and subjected in touchdown PCR to amplify all 8 exons of NPHS2 gene.Variation analysis was performed by direct sequencing of one strand of each exon with an automated sequencer. Results No mutation of NPHS2 gene was found in either patients or controls.Three sequence variations as known single nucleotide polymorphism(SNP)(288CT heterozygous in exon 2.954TC heterozygous,954TC homozygous and 1038AG heterozygous in exon 8) were observed.The allelic frequencies of 288CT(C/T) were 93%/7%;954TC(T/C) as 80%/20%;1038AG(A/G) as 90%/10%.There was not statistically significant between the 2 groups of SNP gene frequency and genotype differences(P0.05).There was no significant difference in the genotypic and allelic frequencies of these polymorphisms between patients and controls. Conclusion There is not enough association of the NPHS2 gene polymorphisms with SRNS in children of south China.
【Fund】: 广东省医学科技基金(WSTJJ20091215);; 广州市医药卫生科技项目(2009-YB-196)
【CateGory Index】: R726.9
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【Citations】
Chinese Journal Full-text Database 2 Hits
1 YU Lei,LIU Guo-ping(Department of Renal,Inner Mongolia Autonomous Region Hospital, Huhhot 010017 China);The Correlations of the NPHS2 C(-601)T-C357T Haplotype and IgA Nephropathy[J];Inner Mongolia Medical Journal;2011-02
2 FENG Dong-ning1,2,YANG Yong-hui1,2,YU Zi-hua1,2,WANG Dao-jing2,MENG Da-chuan2,FU Rong2,WANG Jing-jing2 (1.Department of Pediatrics,Fuzhou Clinical Medical College,Fujian Medical University,Fuzhou 350025,Fujian Province,China;2.Department of Pediatrics,Fuzhou General Hospital of Nanjing Command,Fuzhou 350025,Fujian Province,China);Mutational Analysis of Podocyte Genes in 30 Chinese Children with Sporadic Steroid-Resistant Nephrotic Syndrome[J];Journal of Applied Clinical Pediatrics;2012-05
【Co-citations】
Chinese Journal Full-text Database 2 Hits
1 Lin Na1,Liu Yun-guang1,Qin Yuan-han2(1.Department of Paediatrics,The Affiliated Hospital to Youjiang Medical University for Nationalities, Baise,Guangxi 533000,China;2.Department of Paediatrics, The First Affiliated Hospital to Guangxi Medical University,Nanning,Guangxi 530021,China);The analysis of pathological and clinical characteristic in children with primary nephrotic syndrome[J];Journal of Youjiang Medical University for Nationalities;2010-04
2 LIN Na, LIU Yunguang (Department of Paediatrics, the Affiliated Hospital of Medical College of Youjiang for Nationalities, Youjiang, Guangxi 533000, P.R.China);Research progress on glucocorticoid resistance mechanism in primary nephrotic syndrome of childhood[J];China Journal of Modern Medicine;2009-17
【Secondary Citations】
Chinese Journal Full-text Database 3 Hits
1 WANG Jing-jing1,2,FU Rong2,YE Li-yan1,2,CHEN Xin-min2,YU Zi-hua1,2,REN Rong-na2,HUANG Juan2,HUANG Jun-jing2(1.Department of Pediatrics,Fuzhou Clinical Medical College,Fujian Medical University;2.Department of Pediatrics,Fuzhou General Hospital of Nanjing Command,Fuzhou 350025,Fujian Province,China);Genetic Variations of NPHS2 and WT1 Genes in 6 Children with Chronic Renal Failure in Chinese Han Ethnic Group[J];Journal of Applied Clinical Pediatrics;2009-05
2 MENG Da-chuan~1,2,WANG Dao-jing~1,2,YU Zi-hua~1,2,FU Rong~2,WANG Jing-jing~2,CHEN Xin-min~2,YE Li-yan~2(1.Department of Pediatrics,Fuzhou Clinical Medical College,Fuzhou General Hospital,Fujian Medical University,Fuzhou 350025,Fujian Province,China;2.Department of Pediatrics,Fuzhou General Hospital of Nanjing Command,Fuzhou 350025,Fujian Province,China);Mutational Analysis of CD2AP and NPHS1 Gene in 3 Families from Southern Chinese Han Ethnic Group with Steroid-Resistant Nephrotic Syndrome[J];Journal of Applied Clinical Pediatrics;2011-05
3 WANG Dao-jing~1,2,YU Zi-hua~1,2,MENG Da-chuan~1,2,HUANG Jun~2,NIE Xiao-jing~2(1.Department of Pediatrics,Fuzhou Clinical Medical College,Fuzhou General Hospital,Fujian Medical University,Fuzhou 350025,Fujian Province,China;2.Department of Pediatrics,Fuzhou General Hospital of Nanjing Command,Fuzhou 350025,Fujian Province,China);Mutation of NPHS1 Gene in A Child with Congenital Nephrotic Syndrome in Southern Chinese Han Ethnic Group[J];Journal of Applied Clinical Pediatrics;2011-05
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