福建省Tourette综合征DRD4基因第3外显子48bp VNTR多态性

Study of dopamine D4 gene polymorphism in Tourette syndrome in Fujian province

目的探讨福建省Tourette综合征与DRD4基因第3号外显子48bp VNTR多态性的关系。方法研究对象包括120名正常人和106例Tourette综合征(Gilles de la Tourette syndrom,TS)患者。采用抽提人基因组DNA、聚合酶链反应、琼脂糖凝胶电泳,结合PAGE胶电泳及银染技术检测DRD4基因第3外显子48bpVNTR多态性的等位基因和基因型。部分有代表性等位基因片段的PCR产物直接测序,检测其基因型。将TS患者与正常人的DRD4基因型进行对比,分析其与TS的相关性。结果 TS组与对照组中,DRD448bpVNTR共检测到8种基因型,有5种等位基因,即对应2～6次重复。DRD448bpVNTR基因型总体分布趋势、DRD4等位基因频率分布、DRD448bpVNTR长短重复等位基因比较,TS组与对照组差异有统计学意义(P<0.05)。结论 DRD4第3号外显子的48bpVNTR多态性可能与福建省TS有关联。

Objective To study the relationship between Tourette syndrome and the dopamine receptor-4 gene exon3 48 bp VNTR polymorphism in children from Fujian province.Methods The genotypes and alleles of 120 normal controls and 106 children with TS were detected by polymerase chain reaction,denaturing polyacry lamide gelelectrophorsis and silver staining.Some of them were directly sequenced to examine the genotypes.The 48 bp VNTR alleles and genotypes of patients with TS and controls were compared by chi square test.Results In this study,we found eight genotypes and five alleles of DRD4 48 bp VNTR.There were statistical differences in genotype distribution,allele frequency,contrasting longer allele with shorter allele between TS group and control group.Conclusions we concluded that DRD4 48 bp VNTR polymorphism may be associated with TS in Fujian province.