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【目的】分析儿童注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)与儿茶酚-O-甲基转移酶(catechol-O-methyltransferase,COMT)基因第158位密码子G→A点突变所引起的缬氨酸→甲硫氨酸(Val158Met)的错义突变多态性的关系。【方法】采用实时荧光定量PCR技术,分析了110例ADHD儿童与90例正常儿童COMT基因Val158Met多态性的位点频率。【结果】病例组A等位基因的频率为22.73%,而对照组为23.33%,两组差异无统计学意义(χ2=0.021,P>0.05)。COMT各基因型的分布频率在病例组和对照组之间差异也无统计学意义(χ2=3.668,P>0.05)。【结论】COMT基因Val158Met多态性可能与儿童ADHD无关联。
【Objective】 To investigate the relationship between attention deficit hyperactivity disorder (ADHD) and catechol-O-methyltransferase (COMT) gene codon 158 G → A point mutation in children Caused the valine → methionine (Val158Met) missense mutation polymorphisms in the relationship. 【Methods】 Real-time PCR was used to analyze the frequency of Val158Met polymorphism in COMT gene in 110 ADHD children and 90 normal children. 【Results】 The frequency of allele A was 22.73% in the case group and 23.33% in the control group. There was no significant difference between the two groups (χ2 = 0.021, P> 0.05). The distribution frequency of COMT genotypes was also not statistically different between the case group and the control group (χ2 = 3.668, P> 0.05). 【Conclusion】 Val158Met polymorphism of COMT gene may not be associated with childhood ADHD.