论文部分内容阅读
目的检测孤独症谱系障碍(autism spectrum disorder,ASD)患者基因组DNA甲基化的水平,探讨其在ASD发病中的意义。方法采集2014年1月-2016年2月在儿童保健所门诊就诊及训练的30例ASD患者和正常对照组外周静脉血,分离外周血单个核细胞(Peripheral blood mononuclear cell,PBMCs),抽提DNA,采用Methyflash~(TM)总体DNA甲基化试剂盒检测外周血单个核细胞基因组DNA甲基化水平,实时荧光定量PCR技术检测DNA甲基转移酶1(DNA methyltransferase 1,DNMT1)mRNA表达水平,分析两者之间的相关性及其与儿童孤独症行为量表(Autism Behavior Checklist,ABC)得分的相关性。结果与正常对照组相比,20例ASD患者外周血单个核细胞基因组总体DNA甲基化水平明显降低,差异有统计学意义(P<0.05);两组间DNMT1基因mRNA表达差异无统计学意义(P>0.05)。ASD患者基因组DNA总体甲基化水平与DNMT1的mRNA表达水平无明显相关性(r=0.311,P=0.182);ASD患者基因组DNA总体甲基化水平与ABC量表得分呈负相关(r=-0.504,P=0.038)。ASD患者DNMT1的mRNA表达水平与ABC量表得分无显著相关性(r=-0.112,P=0.645)。结论 ASD患者基因组DNA甲基化水平降低。
Objective To detect the level of genomic DNA methylation in patients with autism spectrum disorder (ASD) and to explore its significance in the pathogenesis of ASD. Methods Peripheral blood mononuclear cells (PBMCs) were isolated from peripheral venous blood of 30 patients with ASD who were seen and trained in outpatient clinics from January 2014 to February 2016. The peripheral blood mononuclear cells (PBMCs) Methyflash TM DNA methylation kit was used to detect genomic DNA methylation level in peripheral blood mononuclear cells, and DNA methyltransferase 1 (DNMT1) mRNA expression levels were analyzed by real-time fluorescence quantitative PCR. The correlation between them and their correlation with Autism Behavior Checklist (ABC) scores. Results Compared with the normal control group, the overall genomic DNA methylation levels of peripheral blood mononuclear cells in 20 patients with ASD were significantly lower (P <0.05), and there was no significant difference in DNMT1 mRNA expression between the two groups (P> 0.05). There was no significant correlation between the overall methylation level of genomic DNA and the DNMT1 mRNA expression in patients with ASD (r = 0.311, P = 0.182). The overall methylation level of genomic DNA in ASD patients was negatively correlated with the ABC scale (r = 0.504, P = 0.038). There was no significant correlation between DNMT1 mRNA expression and ABC scale score (r = -0.112, P = 0.645) in patients with ASD. Conclusion The genomic DNA methylation level in ASD patients decreased.