【摘要】 目的对壮族儿童原发性肾病综合征(Primary Nephrotic Syndrome,PNS)患者磷脂酶CE1(Phospholipase CE1,PLCE1)的基因序列进行检测,探究PLCE1基因多态性与广西壮族儿童PNS的关系。方法收集广西壮族PNS患儿血液样本108例、健康体检儿童100例,采用目标基因捕获联合二代测序技术对样本的PLCE1基因进行测序,将检测到的单核苷酸多态性(SNP)位点进行关联分析,探究该基因的SNP与PNS易感性的关系。结果 (1)对本实验中的PNS组及对照组中检测出的19个SNP位点进行Hardy-Weinberg平衡检测,显示HWE结果均为P>0.05。(2)PLCE1的SNP位点rs11187828各基因型经χ~2检验及Logistic回归分析显示在正常组及PNS组间差异有统计学意义(P<0.05),且在单倍体关联分析中,该位点上CGACTA单倍型的频率在上述两组中差异有统计学意义(P<0.05)。结论 (1)PLCE1基因多态性与广西壮族儿童的PNS发生有关。(2)PLCE1基因的多态位点rs11187828可能会增加中国广西壮族儿童PNS的易感性。更多还原

【Abstract】 Objective To detect the gene sequence of Phospholipase CE1(PLCE1) in Guangxi Zhuang ethnic children with primary nephrotic syndrome(PNS) so as to investigate the relation between PLCE1 gene polymorphism and PNS in Guangxi Zhuang ethnic children. Methods Blood samples were collected from 108 Guangxi Zhuang ethnic children with PNS and 100 healthy children.The target gene capture combined with second-generation sequencing technology was used to sequence the gene PLCE1 of the samples.The detected loci of single nucleotide polymorphism(SNP) were mapped to conduct correlation analysis so as to explore the relation between SNP of this gene and the susceptibility to SNP. Results(1) Hardy-Weinberg balance test was carried out for the 19 SNP loci detected out from the PNS group and control group, and all HWE results were P>0.05.(2) The chi-square test and Logistic regression analysis of the SNP locus rs11187828 geno types of PLCE1 showed statistically significant differences between the normal group and the PNS group(P<0.05). And in the haploid association analysis, there was statistically significant difference in the frequency of CGACTA haplotype at this locus between two groups(P<0.05). Conclusion(1) PLCE1 gene polymorphism is related to the occurrence of PNS in Guangxi Zhuang ethnic children.(2) The polymorphic locusrs11187828 of PLCE1 may increase the susceptibility to PNS in children of Guangxi Zhuang ethnic group in China.更多还原