| abstract |
The invention discloses a method for detecting pathogenic mutations of TRPC6 gene by using target gene sequencing. The second-generation sequencing technology is used to perform gene sequencing of TRPC6 gene for children with primary nephrotic syndrome, and perform related bioinformatics analysis. The 13 exon region-specific capture probes of TRPC6 were designed, hybridized with the genomic DNA library, and the DNA fragments of the target genomic region were enriched, and then sequenced by the illumina Nextseq second-generation sequencer, and compared with the normal Zhuang people. Children were compared, and mutation sites were identified through data analysis. After data analysis, it was found that the heterozygous mutation of c.172C>T (p.R58W) in exon 2 can lead to abnormal expression and function of related proteins, which is considered to be a pathogenic mutation in children of Zhuang ethnic group in Guangxi, China. |