Objective:To analyze the mutation sites and characteristics of phospholipase CE1( PLCE1) gene in children with primary nephrotic syndrome(PNS) in Zhuang, Guangxi, China, so as to explore the expression status of PLCE1 protein in peripheral blood of PNS patients. Methods:(1)Blood samples of 154 Zhuang children with PNS and 98 healthy children of Zhuang nationality from July 2015 to September 2017 in Affiliated Hospital of Youjiang Medical College for Nationalities were collected to sequence PLCE1 gene with FastTarget target gene capture method in the combination with next generation sequencing.Based on the comparison between mutation results and information from the database, the pathogenicity, phenotype and distribution characteristics of these mutation sites were discovered and appraised.(2)The concentration of PLCE1 protein in serum samples were measured by enzyme-linked immuno sorbent assay, then the data of PNS group and healthy control group were compared and analyzed statistically with SPSS 25.0. Results:(1)A total of 18 low-frequency mutations of PLCE1 were observed, 5 of them(c.670C>T, c.578T>C, c.923G>T, c.4916C>T, and c. 5927_5929del) were found only in the PNS group, and 3 of them occurred in both PNS group and healthy control group: c.176C>T, c.389T>C, and c. 4304C>T.Five newly discovered mutations (c.923G>T, c.958T>A, c.1151C>T, c.2341A>G, and c. 3592G>C)were discovered and only c. 923 G>T is pathogenic mutation of PLCE1.(2)The concentration of PLCE1 protein in healthy control group was 414.65 (231.20, 729.81) ng/L and the level of PLCE1 in PNS group was 237.84 (116.14, 535.85) ng/L, ( Z=-3.212, P<0.001), and the value of PNS group was lower than that in the healthy control group. Conclusions:(1)As a new pathogenic mutation of PLCE1, c.923G>T was found.(2)The phenotype of PLCE1 gene mutation in Zhuang children with PNS was diverse, and they may differ by race and region.(3) PLCE1 protein of serum may act as a protective protein to guarantee various life activities of cells by participating in multiple signal transduction pathways.

Objective To analyze the relation among intestinal flora,expressions of brain-derived neurotrophic factor(BDNF) and tight junction protein ZO1 in patients with functional gastrointestinal disorder.Methods Thirty-two patients with functional gastrointestinal disorder undergoing enteroscopy from August 2014 to March 2015 in Shanxi Provincial People's Hospital were enrolled.Specimens of feces and colonic mucosa were collected to extract DNA;high-throughput sequencing of the V3-V4 region of 16S rRNA was performed.Expressions of BDNF and ZO1 mRNA in feces and colonic mucosa were detected by the real-time fluorescence quantitative polymerase chain reaction.Bacterial flora distribution of feces and colonic mucosa was observed using bioinformatics method.The relation among flora distribution,expressions of BDNF and ZO1 was analyzed.Results Abundance count of bacteria at genus level showed significant differences among specimens of fecal flora and colonic mucosal flora.At species level,over a dozen of strains of bacteria were negatively related to BDNF expression;many strains of bacteria were positively related to ZO1 expression.Gardnerella vaginalis and Sutterella_sp._252 in feces,Bacteroides vulgatus,uncultured Ruminococcus sp.,uncultured bacterium adhufec236,bacterium Shr3 and uncultured bacterium adhufec77.25 in mucosa were correlated with both BDNF and ZO1 expression.Butyrateproducing bacterium_GM2/1 and Bifidobacterium_longum were negatively related to BDNF expression in feces but positively related to ZO1 expression in mucosa.Conclusion Some strains of bacteria are correlated with both BDNF and ZO1 in patients with functional gastrointestinal disorder;the strains provide a new choice for the treatment of functional gastrointestinal disorder.