论文部分内容阅读
目的探讨5-HTTLPR、5-HT2A受体基因(5-HTR2A)T102C多态性、多巴胺β羟化酶基因(DβH)5’侧翼区-1021C/T多态性及其交互作用对儿童注意缺陷多动障碍(ADHD)的影响,为ADHD儿童的干预与治疗提供理论依据。方法对包头市某小学确诊为ADHD的78例儿童和87名对照组儿童应用PCR-限制性片段长度多态性(PCR-RFLP)方法检测5-HTTLPR、5-HTR2A的T102C多态性及DβH5’侧翼区-1021C/T多态性,采用χ2检验分析3种基因多态性对ADHD的影响,运用Logistic回归分析基因-基因交互作用。结果 5-HTR2A的T102C的基因型频率在ADHD组与对照组间差异有统计学意义(χ2=5.28,P=0.02),5-HTTLPR、DβH5’侧翼区-1021C/T的基因型频率在两组间差异无统计学意义(χ2值分别为0.24,0.01,P值均>0.05);5-HTR2A的T102C基因位点的突变型发生儿童ADHD的危险性是野生型的2.17倍,5-HTR2A的T102C基因位点的突变型分别与5-HTTLPR的S等位基因DβH5’侧翼区-1021C/T基因位点的突变型、共同作用发生儿童ADHD的危险性是单一野生型的2.00,2.80倍。结论 5-HTR2A的T102C的基因型频率在ADHD组与对照组间差异有统计学意义,5-HTTLPR、5-HTR2A的T102C多态性及DβH5’侧翼区-1021C/T多态性在儿童ADHD的发生中存在交互作用。
Objective To investigate the polymorphisms of 5-HTTLPR, 5-HT2A receptor gene (5-HTR2A) T102C, the 5 ’flanking region-1021C / T polymorphism of dopamine β hydroxylase gene (DβH) and their interactions in children with attention deficit (ADHD), provide a theoretical basis for the intervention and treatment of children with ADHD. Methods 78 children diagnosed with ADHD in a primary school in Baotou and 87 control children were enrolled in this study. The polymorphisms of 5-HTTLPR, 5-HTR2A and DβH5 were detected by PCR-restriction fragment length polymorphism (PCR-RFLP) ’Flanking region -1021C / T polymorphism, χ2 test analysis of three kinds of gene polymorphisms on ADHD, the use of Logistic regression analysis of gene-gene interaction. Results The genotype frequency of T102C in 5-HTR2A was significantly different between ADHD group and control group (χ2 = 5.28, P = 0.02). The genotype frequency of 5-HTTLPR and DβH5 ’flank region-1021C / There was no significant difference between the two groups (χ2 = 0.24, 0.01, P> 0.05). The mutation risk of 5-HTR2A mutation in T102C gene was 2.17 times of that in wild type and 5-HTR2A Mutations of the T102C locus of the 5-HTTLPR S-allele together with the mutant at the DβH5 ’flanking region -1021C / T locus, respectively, were 2.00 and 2.80 times as high as those of the single wild-type . CONCLUSION: The genotype frequency of T102C in 5-HTR2A has significant difference between ADHD group and control group. The polymorphism of 5-HTTLPR, 5-HTR2A T102C and DβH5 ’flank region -1021C / T polymorphism in children with ADHD There is an interaction in the occurrence of.