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