摘要
目的 研究多巴胺 D4受体第 3外显子 48bp可变重复序列 (DRD4exon 48bp VNTR)多态性是否与抽动障碍 (tic disorder,Tic)存在关联。方法 采用国际标准化的《Tourette综合征及其相关疾病遗传研究定式检查提纲》收集病史 ,运用核心家系传递不平衡分析方法 (transmission disequilibrium test,TDT)对 12 2个核心家系进行关联分析 ,根据是否合并注意缺陷多动障碍 (attention deficit and hyperactivi-ty disorder,ADHD) ,将 12 2个核心家系分为合并 ADHD的抽动障碍组 [合并 ADHD的 Tourette综合征(Tourette syndrome,TS)和慢性抽动障碍 (chronic tic,CT) ,共 40例 ,TS& ADHD]和抽动障碍组 [TS和CT,共 82例 ,TS& CT]两组 ,采用聚合酶链反应、可变重复序列多态性分析等技术 ,进行抽动障碍与 DRD4exon 48bp VNTR多态性的 TDT分析。结果 在这一多态性位点存在 5个等位基因 ,分别为 DRD4exon 48bp的 2～ 6个重复等位基因。总体上没有发现抽动障碍与 DRD4exon 48bp VNTR多态性存在传递不平衡 (χ2 =7.44 ,P=0 .12 ) ,进一步对不伴 ADHD的抽动障碍组进行的 TDT分析也没有发现存在这一位点的传递不平衡 (χ2 =3.38,P=0 .5 0 ) ;而在合并 ADHD的抽动障碍组中发现 ,合并 ADHD的抽动障碍与 DRD4exon 48bp
Objective To investigate whether DRD4exonⅢ48 bp variant number tandem repeat(VNTR) polymorphism is associated with tic disorder.Methods One hundred and twenty-two nucleus families were collected using 'Structured clinical interview for genetic study of Tourette syndrome and related disorders' for family-based association analysis of tic disorder and DRD4 exonⅢ 48bp VNTR polymorphism. One hundred and twenty-two trios were divided into two groups: tic disorder group (82 trios of Tourette syndrome or chronic tic disorder, TS&CT) and tic disorder accompanied with attention deficit and hyperactivity disorder (ADHD) group (40 trios of Tourette syndrome or chronic tic disorder accompanied with ADHD, TS&ADHD). Transmission disequilibrium test (TDT), in addition to polymerase chain reaction and VNTR technique were conducted in 122 trios. Results There exist 5 alleles at this polymorphic locus in this sample including DRD4 exonⅢ48 bp 2-6 repeats. No transmission disequilibrium was found between DRD4 exonⅢ 48 bp VNTR and tic disorder (χ 2=7.44, P =0.12); however, when the sample was divided into two groups, transmission disequilibrium was noticed between the cases of TS&ADHD and this locus by overall allele-wise analysis (χ 2=11.74, P =0.02), and there exists transmission disequilibrium exclusively between 5 or 6 repeats of 48bp VNTR(longer alleles) by allele-wise analysis (χ 2=10.57, P =0.032,χ 2=6.13, P =0.01), No transmission disequilibrium was seen between TS&CT and DRD4exonⅢ 48 bp VNTR(χ 2=3.38, P =0.50). Conclusion The results of this study have revealed an association between the longer alleles of DRD4 exonⅢ 48 bp VNTR polymorphism and tic disorder accompanied with ADHD, thus suggesting a possible genetic risk factor of tic disorder accompanied with ADHD in Chinese.
出处
《中华医学遗传学杂志》
CAS
CSCD
2002年第2期100-103,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金 (39970 2 71 )~~
关键词
抽动障碍
注意缺陷多动障碍
多巴胺D4受体基因
可变重复序列多态性
传递不平衡检测
儿童
诊断
tic disorder
attention deficit and hyperactivity disorder
dopamine D4 receptor gene
variant number tandem repeat polymorphism
transmission disequilibrium test
