中文摘要：

目的 探讨成人认知功能与性别、年龄、教育年限以及多巴胺受体4基因之间的关系.方法 对455名健康受试者采用汉诺塔、威斯康星卡片分类和连线测验进行认知检测.同时抽取受试者外周静脉血2 mL,用常规苯酚-氯仿法提取DNA后,用Illumina GoldenGate基因芯片对位于多巴胺受体4基因启动子区域的rs3758653位点进行基因分型.结果 男性汉诺塔平均执行时间和汉诺塔总分优于女性,而汉诺塔平均计划时间差于女性;年龄和性别对大多数的认知功能均有影响,年龄越大,认知能力越差,而教育年限越长,认知能力越好;多巴胺受体4基因rs3758653多态性主要与汉诺塔平均执行时间相关.与A等位基因携带者相比,G等位基因携带者汉诺塔平均执行时间较长.结论 性别、年龄、教育年限及多巴胺受体4基因多态性均对成人认知功能具有影响.

英文摘要：

Objective To assess the association of cognitive functions with gender,age,education and polymorphism of dopamine receptor D4 （DRD4） gene in healthy adults.Methods Four hundred and fifty-five healthy participants have completed 3 cognitive function tests including Tower of Hanoi （TOH）,Wisconsin Card Sorting Test （WCST） and Trail Making Test （TMT）.Peripheral blood samples were collected from all participants,and genomic DNA was extracted according to a standard phenol-chloroform procedure.Rs3758653 in the promoter region of the DRD4 gene was genotyped using Illumina GoldenGate genotyping assay.Results Males have performed better than females in terms of TOH executive time and TOH total score,but did worse in TOH planning time.Most of the measured cognitive domains were affected by age and education.Cognitive ability has decreased along with increased age and decline of educational years.The polymorphism of rs3758653 has mainly correlated with the TOH executive time.Compared with A allele carriers,G allele carriers did worse in TOH executive time.Conclusion Gender,age,education and the rs3758653 polymorphism of the DRD4 gene play an important role in cognitive functions in healthy adults.