摘要目的 探讨中国汉族群体5-羟色胺受体102 T/C(HTR-2A 102 T/C)多态性与Tourette综合征(TS)的关系.方法 对101个核心家系(TS患者及其父母)采用聚合酶链反应和限制性内切酶消化(PCR-RFLP)、传递不平衡检验(TDT)方法和单倍型相对风险分析(HRR),研究HTR-2A 102 T/C多态性与TS的关系.结果 对父母组和患者组的等位基因和基因型进行Hardy-Weinberg遗传平衡法则检验,等位基因和基因型分布符合Hardy-Weinberg平衡检验(父母:x2=0.823,P=0.364;TS:x2=0.365,P=0.546).HTR-2A 102 T/C多态性与TS没有明显关联(TDT=0.353,f=1,P=0.621;HRR=1.127,x2=0.358,P=0.550,95％ CI:0.762～1.666).结论 HTR-2A 102 T/C多态性可能不是汉族人群TS发病的易感基因位点,但此结论仍需进一步扩大样本并在不同的种族中验证.

abstractsObjective To investigate whether polymorphism of 102 T/C in 5-HTR2A (serotonin receptor 2A) are associated with Tourette syndrome (TS) in Chinese Han population or none.Methods A total of 101 TS patients and their parents were recruited for the study.The genetic contributions of the 5-HTR-2A 102 T/C polymorphism in 5HTR2A were evaluated using polymerase chain reaction and restriction enzyme digestion (PCRRFLP) and haplotype relative risk (HRR) and transmission disequilibrium test (TDT) statistics.Results The results revealed no significant associations between the 5-HTR-2A 102 T/C polymorphism and TS (HTR-2A 102T/C,TDT =0.353,df=1,P =0.621 ;HRR =1.127,x2 =0.358,P =0.550,95％ CI:0.762-1.666).Conclusion The data suggest that the HTR-2A 102 T/C polymorphism may not be associated with susceptibility to TS in the Chinese Han population.However,these results need to be replicated using larger datasets collected from different populations.