儿茶酚胺氧位甲基转移酶基因Ala22/72Ser多态性与精神分裂症的相关性及初步功能学探索

目的 研究儿茶酚胺氧位甲基转移酶（COMT）基因单核苷酸多态性（SNP）位点Ala22/72Ser与北方汉族人群精神分裂症（SCZ）之间的关系。方法 在506例SCZ患者中,用聚合酶链式反应（PCR）--测序方法,对COMT基因Ala22/72Ser位点进行基因分型;用阳性与阴性症状量表（PANSS）对患者的精神病性症状的严重程度进行评分;同时用Real-Time PCR测定COMT基因的表达量。结果 在SCZ患者中,携带Ser等位基因和Ser/Ala基因型的患者的阳性症状总分和一般精神病理症状总分显著升高（P < 0.01）,而且COMT基因的表达量显著降低（P < 0.01）。结论 COMT基因的Ala22/72Ser多态性与SCZ患者的阳性症状和一般精神病理症状的严重程度相关,而且与COMT基因表达量相关。

Association of Ala22/72Ser polymorphism in the catechol-O-methyhransferase gene with schizophrenia and preliminary functional exploration

Objective Define the association of the catechol-O-methyltransferase(COMT) gene single nucleotide polymorphism(SNP) Ala22/72Ser with schizophrenia(SCZ) in Northern Han population.Methods In 506 SCZ patients,the genotype of Ala22/72Ser of COMT gene was sequenced and typing by polymerase chain reaction(PCR)-sequencing;the severity of psychiatric symptoms of SCZ patients was scaled by positive and negative syndrome scale(PANSS);the expression of COMT gene was determined by Real-Time PCR.Results In SCZ patients...