注意缺损多动障碍中五羟色胺6受体基因与多巴胺转运体基因之间的相互影响  

An interaction between serotonin 6 receptor gene and dopamine transporter 1 gene in attention-deficit hyperactivity disorder

作　　者：钱伊萍[1] 忻仁娥[1] 李飞[1] 汪栋祥[1] 汤国梅[1] 张野[1] 江三多[1] 

机构地区：[1]上海市精神卫生研究所分子遗传室,200030

出　　处：《中国民政医学杂志》2002年第2期65-68,共4页Medical Journal of Chinese Civil Administration

摘　　要：目的 :探讨注意缺损多动障碍 (ADHD)患者中五羟色胺 6受体 (5 HTR6 )基因与多巴胺转运体 (DAT1)基因之间的相互影响。方法 :采用聚合酶链式反应 限制性片段长度多态 (PCR RFLP)和扩增片段长度多态 (Amp FLP)的分子遗传学技术方法 ,对 74个ADHD核心家系进行单体型关联分析。 结果 :①核心家系组成的患儿组和对照组在 5 HTR6基因等位基因、基因型的分布上差异无显著性。经基于单体型和基于基因型的单体型相对风险分析 ,5 HTR6基因与ADHD均无关联。②上海地区汉族人中 ,DAT1基因多态以等位基因 4 80bp片段 (核心序列为 4 0bp的可变数目串联重复序列的 10次重复 )为主 ,其基因频率为 (92 % )。③有关 5 HTR6基因的 2 6 7C/T变异和DAT1重复序列多态性在患儿组和对照组中的分布 ,经 χ2 检验表明各组之间差异均无显著性。结论 :上海地区汉族人群中 5 HTR6基因多态性与注意缺损多动障碍无遗传关联。也未能发现注意缺损多动障碍中 5Objectives: To investigate the interaction between serotonin 6 receptor(5 HTR6)gene and dopamine transporter(DAT1)gene in Attention Deficit Hyperactivity Disorder(ADHD) Methods: 74 nucleus families were selected for study The alleles and genotypes of 5 HTR6 gene and DAT1 gene were detected with PCR RFLP(polymerase chain reaction restriction fragment length polymorphism)and Amp FLP(amplified fragment length polymorphism)techniques The data were processed by the genotype based haplotype relative risk(GHRR),haplotype based haplotype relative risk(HHRR)methods Results:(1)There is no association between C267T polymorphism in exon 1 of the 5 HTR6 gene and ADHD (2)In our sample,the 10 repeat(480bp)is the dominant allele frequency(92%) (3)There is no significant difference in distribution of polymorphisms of 5 HTR6 gene in 480/480 homozygotes and 480bp carries(heterozygotes)of the DAT1 gene in ADHD Conclusion: Currently,our results do not support any association between 267C/T polymorphism of the 5 HTR6 gene and ADHD,and,an interaction between 5 HTR6 gene and DAT1 gene may not exist in the etiology of ADHD [

关 键 词：注意缺损多动障碍 5-HTR6基因 DAT1基因 PCR-RFLP 分子遗传学 AMP-FLP ADHD 

分 类 号：R749.94[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]