中文摘要：

目的探讨首发精神分裂症患者认知功能与多巴胺D1受体基因间的关系。方法使用韦氏成人智力量表（WAIS—R）、韦氏记忆量表（WMS）、威斯康星卡片分类测验（WCST）评定112例首发精神分裂症患者和60例健康对照者的认知功能，并利用TaqMan荧光探针SNP基因分型技术对DRD1基因rs4532位点进行基因分型。结果患者组与对照组间DRD1基因rs4532位点基因型及等位基因频率分布的差异无统计学意义（分别为χ^2=2．90，P=0．35；χ^2=0．01，P=0．93）；WCST各指标在病例组与对照组之间存在显著性差异（P〈0．01）；携带rs4532G等位基因的精神分裂症患者WCST中持续性错误率显著高于不携带rs4532G等位基因的患者[分别为（60．9±13．2）％，（44．9±21．3）％，t=4．79，P=0．00002]。结论DRDI基因rs4532多态性位点可能与精神分裂症患者执行功能损害有关。

英文摘要：

Objective To investigate the relationship between cognitive function of first-episode schizophrenic patients and dopamine D1 receptor gene. Methods A total of 112 first-episode schizophrenic patients and 60 healthy controls were evaluated with Wechsler adult intelligence scale （ WAIS-R ） , Wechsler memory scale （WMS） and Wisconsin card sort test （WCST） ,and genotyped one polymorphism （rs4532） within DRD1 gene using TaqMan SNP genotyping assay. Results There were no significant differences on the frequencies of the genotypes and alleles of rs4532 polymorphism between patients with schizophrenia and normal controls （χ^2 = 2.90, P= 0.35; χ^2 = 0.01, P = 0.93 ）. There were significant differences in all index of WCST between two groups （P 〈 0.01 ）. Patients with rs4532G allele had worse WCST performance than those without G allele （ （60.9 ± 13.2） % vs （44.9 ±21.3）% , t=4.79, P= 0. 00002 ） . Conclusion Rs4532 polymorphism of DRD1 gene may be associated with executive function impairment in schizophrenic patients.