Analysis of TRPC6 gene variation in children with steroid-resistant nephritic syndrome

单核苷酸多态性 外显子 SNP公司 肾病综合征 基因 基因型 生物 遗传学 内科学 医学 肾小球肾炎
作者
Yao Zhang,Yu Li
出处
期刊:国际医药卫生导报 卷期号:24 (23): 3559-3562
标识
DOI:10.3760/cma.j.issn.1007-1245.2018.23.010
摘要

Objective To investigate the TPRC6 gene variation and its clinical features of children with steroid-resistant nephritic syndrome (SRNS). Methods The clinical data and peripheral blood of 30 children with SRNS and 30 healthy children were collected from South China area. The genomic DNA was extracted, all exons of TRPC6 gene were amplified by PCR, DNA sequences were detected and then compared with NCBI gene database. The difference of gene distribution were analyzed statistically between SRNS group and healthy group. Results No significant mutation of the TRPC6 gene was detected in the two groups; single nucleotide polymorphisms: 423C>T, in exon 7 of TRPC6 was detected in 3 children with SRNS. The difference of SNP distribution between the two groups was not significant (P>0.05). Conclusion TRPC6 single nucleotide polymorphisms (423C>T) in exon7 was not associated with the pathogenesis of SRNS in children. Key words: Children; Nephritic syndrome; Steroid-resistance; TRPC6; Single nucleotide polymorphism

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