论文部分内容阅读
目的检测CD2相关蛋白(CD2AP)基因启动子在儿童激素耐药型肾病综合征(SRNS)中的突变情况,探讨其在肾病综合征发病机制中的作用。方法采集65例SRNS患儿(SRNS组)和110例健康对照儿童(健康对照组)外周血并抽提DNA,采用PCR和DNA直接测序法对CD2AP基因启动子进行突变筛查。组间等位基因和基因型的分布差异采用χ2检验。结果 1.SRNS组检出1例CD2AP基因启动子突变(碱基变化-473C/T),健康对照组未发现该突变;2.SRNS组检出2例CD2AP基因启动子突变(碱基变化-441C/G),但健康对照组也发现3例该突变,可能为新的多态性位点;3.SRNS组17例患儿发现多态性(rs1056343,碱基变化-191A/C),健康对照组发现50例该多态性,2组突变基因型频数存在明显差异。结论 1.中国人群儿童中有CD2AP基因启动子多态性存在,CD2AP基因启动子-191A/C多态性可能与SRNS患儿的发病风险相关;2.CD2AP基因启动子存在-473C/T和-441C/G突变。
Objective To detect the mutation of CD2-related protein (CD2AP) gene promoter in children with steroid-resistant nephrotic syndrome (SRNS) and to explore its role in the pathogenesis of nephrotic syndrome. Methods Peripheral blood samples from 65 children with SRNS (SRNS group) and 110 healthy children (healthy control group) were collected and DNA was extracted. The CD2AP gene promoter was screened by PCR and DNA direct sequencing. The differences in the distribution of alleles and genotypes between groups were analyzed using the χ 2 test. Results 1.SRNS group detected one case of CD2AP gene promoter mutation (base change -473C / T), healthy controls did not find the mutation; 2.SRNS group detected two CD2AP gene promoter mutations (base changes - 441C / G). However, 3 cases of this mutation were also found in the healthy control group, which may be new polymorphic loci. (3) Polymorphism (rs1056343, base change -191A / C) The healthy control group found 50 cases of the polymorphism, two groups of mutant genotypes there is a significant difference. There are CD2AP gene promoter polymorphisms in Chinese children, CD2AP gene promoter -191A / C polymorphism may be associated with the risk of SRNS children; 2. CD2AP gene promoter -473C / T and -441C / G mutation.