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目的通过比较孤独症谱系障碍(autism spectrum disorders,ASD)患者和正常对照脑源性神经营养因子(brain derived neurotrophic factor,BDNF)基因启动子Ⅰ区和Ⅳ区各CpG单元甲基化率,探讨ASD可能的发病机制。方法选取ASD患者12例及正常对照12名,利用飞行时间质谱法检测全血中BDNF基因启动子Ⅰ和Ⅳ区各CpG单元甲基化率,并分析其相关性距离、进化关系,比较两组各单元甲基化率。结果在BDNF启动子Ⅰ区和Ⅳ区分别检测到17个和8个CpG单元的甲基化率。ASD患者组BDNF启动子Ⅰ区中CpG单元4、7、10、35,以及BDNF启动子Ⅳ区CpG单元11.12、14相关性距离较近,聚类成比较小的分支。ASD患者BDNF启动子Ⅰ区CpG单元5.6甲基化率低于对照组(P<0.05),Ⅳ区CpG单元3和15甲基化率高于对照组(P<0.05)。结论 ASD患者BDNF启动子Ⅰ区CpG单元5.6和Ⅳ区CpG单元3和15甲基化率在ASD患者组和对照组差异显著,提示BDNF启动子甲基化可作为ASD潜在的生物标志物深入研究。
Objective To compare the methylation rates of CpG units in region Ⅰ and region Ⅳ of brain derived neurotrophic factor (BDNF) gene in patients with autism spectrum disorders (ASD) and explore the relationship between ASD Possible pathogenesis. Methods 12 patients with ASD and 12 normal controls were selected. The methylation rates of CpG units in promoter region Ⅰ and region Ⅳ of BDNF gene in whole blood were detected by time of flight mass spectrometry (GC-MS), and their correlation distance and evolutionary relationship were analyzed. The methylation rate of each unit. Results The methylation rates of 17 and 8 CpG units in BDNF promoter region Ⅰ and Ⅳ were detected respectively. ASD patients group BDNF promoter region Ⅰ CpG units 4,7,10,35 and BDNF promoter region Ⅳ CpG units 11.12,14 closer correlation clustering into smaller branches. The methylation rate of CpG unit 5.6 in Ⅰ region of BDNF promoter in ASD patients was lower than that in control group (P <0.05). The methylation rates of CpG unit 3 and 15 in Ⅳ region were higher than those in control group (P <0.05). CONCLUSIONS: The methylation rates of CpG units 3 and 15 of CpG unit Ⅰ and CpG unit in region Ⅰ of BDNF promoter in ASD patients were significantly different between ASD patients and controls, suggesting that BDNF promoter methylation may be used as a potential biomarker for ASD .