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目的:探讨脑源性神经营养因子(Brain-derivedneurotrophicfactor,BDNF)G196A、C270T及Val66Met3个单核苷酸多态性(SNP)位点与注意缺陷多动障碍(ADHD)的关系。方法:选取无亲缘关系的ADHD患者共114例,健康对照共96例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测G196A、C270T和Val66Met3个多态性位点的多态性,采用HaploView4.0及SPSS13.0软件进行连锁不平衡分析并比较两组基因型分布和等位基因频率。结果:BDNF三个多态性位点基因型及等位基因频率分布均符合Hardy-Weinberg定律。ADHD组G196A和C270T多态性位点分布与正常对照组比较差异无统计学意义,而BDNF基因Val66Met位点的基因型及等位基因频率分布在ADHD组与对照组存在显著性差异(p<0.05),ADHD组Val66Met位点的等位基因G(Val)频率显著高于正常对照组。结论:BDNF基因Val66Met多态性可能与ADHD发病有关,携带有Val66Met多态性位点G等位基因的个体可能更容易产生ADHD。
OBJECTIVE: To investigate the association of three single nucleotide polymorphisms (SNPs) of G196A, C270T and Val66Met in brain derived neurotrophic factor (BDNF) with attention deficit hyperactivity disorder (ADHD). Methods: A total of 114 unrelated ADHD patients and 96 healthy controls were selected. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of three G196A, C270T and Val66Met polymorphisms. HaploView 4.0 and SPSS 13.0 software were used to analyze the linkage disequilibrium The genotype distribution and allele frequency were compared between the two groups. Results: The genotypes and allele frequency distributions of BDNF polymorphisms were in accordance with Hardy-Weinberg’s law. There was no significant difference in the distribution of G196A and C270T polymorphism loci between ADHD group and normal control group, while the genotype and allele frequency distribution of Val66Met locus in BDNF gene were significantly different between ADHD group and control group (p < 0.05). The allele G (Val) frequency of Val66Met in ADHD group was significantly higher than that of normal control group. Conclusion: Val66Met polymorphism of BDNF gene may be associated with the pathogenesis of ADHD. Individuals carrying the G allele of Val66Met polymorphism may be more likely to develop ADHD.