精神分裂症患者多巴胺D1受体基因-48A／G多态性与认知功能的关系

Association study between cognitive function in schizophrenics and dopamine D1 receptor gene-48A/G polymorphism.

目的探讨精神分裂症患者多巴胺D1受体基因-48A／G多态性与认知功能的关系。方法应用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP),检测103例精神分裂症患者多巴胺D1受体基因-48A／G多态性。采用威斯康星卡片分类测验(Wiscosin Card Sorting Test,WCST)和韦氏成人智力量表修订版(Wechsler Adult Intelligence Scale-RC,WAIS-RC)评估患者的认知功能。结果其中分类数、错误应答数、持续应答数、非持续错误数、算术、数字广度(顺)、数字符号及木块图得分在AA基因型和AG+GG基因型两组患者间均无显著性差异(P>0．05),但持续错误数(t=2．321,P<0．05)和数字广度(逆)(t=3．042,P<0．01)在两组间有显著性差异,AA基因型患者持续错误数和数字广度(逆)得分明显高于AG+GG基因型患者。结论精神分裂症患者D1受体基因-48A／G多态性与持续性错误数及数字广度(逆)相关,AA基因型精神分裂症患者较AG+GG基因型患者工作记忆受损更严重,但短时记忆能力要强于后者。

Objective To investigate the relationship between dopamine D1 receptor gene -48A/G polymorphism and cognitive function of schizophrenic patients in Chinese Han population of Hubei province. Methods The Polymerase Chain Reaction-Restriction Fragment Length Polymorphisms （PCR-RFLP） technique was used to detect the genotypes of the D1 receptor gene in 103 patients. They were administered the neuropsychological tests including Wiscosin Card Sorting Test （WCST） and Wechsler Adult Intelligence Scale-RC （WAIS-RC）. Results No statistically significant difference was found between genotypes and categories achievment, total errors, perseverative responses, nonperseverative errors, arithmetic, digital span（ obverse recite）, digital symbol and block design. But a significant difference was found between genotypes and perseverative errors and digital span（ reverse recite） , the scores of perseverative errors and digital span（ reverse recite） in genotypes AA were higher than those in AG ＋ GG. Conclusions The dopamine D1 receptor gene polymorphism was associated with perseverative errors and digital span（ reverse recite） tests performance. This finding suggests that the Dopamine D1 receptor gene polymorphism may affect working memory and the physiology of the prefrontal cortex in schizophrenic patients, probably by affecting prefrontal dopamine signaling.