蒙、汉族儿童原发性肾病综合征TIM-3基因及IFN-γ检测的意义

发布时间：2018-02-15 19:28

本文关键词： 肾病综合征基因多态性儿童　出处：《临床儿科杂志》2017年07期 　论文类型：期刊论文

【摘要】：目的研究TIM-3基因多态性及γ干扰素(IFN-γ)水平与儿童原发性肾病综合征(PNS)发病的相关性。方法采用病例对照研究,选取汉族PNS患儿21例,蒙古族(祖籍三代以上均为蒙古族)、汉族(祖籍三代以上均为汉族)健康体检各20例为对照组;采用PCR 限制性片段多态性分析方法,分析检测PNS患儿和对照组的T细胞免疫球蛋白黏蛋白分子3(TIM-3)基因外显子-574 A/C的单核苷酸多态性,比较基因型及等位基因频率;采用酶联免疫吸附法检测血IFN-γ水平,并分析其变化。结果汉族和蒙古族正常对照组之间TIM-3基因外显子-574A/C位点基因型(AA、AC、CC)分布差异无统计学意义(P=0.741);两组间等位基因频率差异也无统计学意义(P=0.655)。将汉族和蒙古族正常对照组合并与汉族PNS患儿进行比较,汉族PNS患儿-574A/C位点AA、AC和CC基因型频率分别为9.52%、28.57%和61.90%,与40例正常对照组儿童的基因型分布差异有统计学意义(P=0.017);汉族PNS患儿的C等位基因频率为76.2%,高于正常对照组(50.0%),差异有统计学意义(P=0.005),与A等位基因个体比较,C等位基因携带者儿童发生PNS的风险增加3.20倍(95%CI:1.39~7.37)。汉族PNS、汉族以及蒙古族正常对照组之间血清IFN-γ水平的差异无统计学意义(P0.05)。结论 TIM-3基因外显子-574A/C的单核苷酸多态性可能与儿童PNS的发病相关;IFN-γ与儿童原发性肾病综合征的发病无明显相关性。
[Abstract]:Objective to study the association between TIM-3 gene polymorphism and IFN- 纬 levels in children with primary nephrotic syndrome (PNS). The healthy physical examination of the Mongolian nationality (all of the three generations were Mongolian) and the Han nationality (the Han nationality above the third generation were all the Han nationality) was used as the control group, and the PCR restriction fragment polymorphism analysis method was used to analyze the health of the Mongolian nationality and the Han nationality (all the Han nationality of the Han nationality). The single nucleotide polymorphisms of exon -574 A / C of T cell immunoglobulin mucin molecule 3- (TIM-3) gene in children with PNS and control group were analyzed to compare the genotypes and alleles, and the levels of IFN- 纬 in blood were detected by enzyme-linked immunosorbent assay (Elisa). Results there was no significant difference in the distribution of TIM-3 gene exon -574A / C genotype between Han and Mongolian controls, and there was no significant difference in allele frequencies between the two groups. The comparison was made between the normal control group of the ancient nationality and the children of Han nationality with PNS. The genotype frequencies of -574A / C locus AAAC and CC in Han nationality were 9.52% and 61.90%, respectively, which were significantly different from those of 40 normal control children, and the C allele frequency of Han children with PNS was 76.2A / C, which was higher than that of normal controls (50.0). The difference was statistically significant. Compared with A allele, the risk of PNS in children with C allele increased 3.20 times. The serum IFN- 纬 level in Han nationality, Han nationality and Mongolian normal control group was not significantly different. Conclusion the single nucleotide polymorphism of exon -574A / C of TIM-3 gene may be related to the pathogenesis of PNS in children. There is no significant correlation between IFN- 纬 and primary nephrotic syndrome in children.
【作者单位】：天津市儿童医院第二儿童医院儿内科;内蒙古医科大学附属医院儿科;
【分类号】：R726.9

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