递质受体相关候选基因与强迫谱系障碍

Linkage analysis between obsessive compulsive spectrum disorders and candidate genes of dopaminergic and serotonergic systems

目的:了解多巴胺D2受体(DRD2)基因、D3受体(DRD3)基因、D4受体(DRD4)基因、多巴胺转运体(DAT1)基因、儿茶酚胺氧位甲基转移酶(COMT)基因、5-羟色胺2A受体(5-HTR2A)基因、5-羟色胺转运体(5-HTT)基因等与强迫谱系障碍(OCSDs)的连锁关系。方法:选取一个连续3代发病的强迫谱系障碍家系,共20名,量表采用遗传研究诊断问卷(DIGS)及遗传研究家族问卷(FIGS)。采集该家系中12个正常个体,8个受累个体的血样,选取DRD2、DRD3、DRD4、DAT1、COMT、5-HTR2A、5-HTT基因附近27对微卫星标记引物,采用两点和多点非参数分析的方法对该家系进行连锁分析。结果:27对微卫星标记位点的两点和多点非参数分析LOD值(NPL值)均未达到验证性连锁的阈值(NPL=1.2)。结论:未能验证DRD2、DRD3、DRD4、DAT1、COMT、5-HTR2A、5-HTT基因与OCSDs的连锁关系,但亦不能排除这些基因与OCSDs的相关性。

Objective：To investigate the linkage relationship between dopamine D2 receptor（DRD2）, dopamine D3 receptor （ DRD3 ）, dopamine D4 receptor （ DRD4 ）, dopaminc transporter （ DATI ）, catechol-o-methyh ransferase （COMT）, serotonin 2A receptor（5-HTR2A）, serotonin transporber（5-HTT） gene locus and obsessive compulsive spectrum disorders. Method： 20 subjects from a family were recruited, including 8 patients with obsessive compulsive spectrum disorders and 12 normal relatives. The subjects were interviewed with diagnostic interview for genetic studies （DIGS） and family interview for genetic studies（FIGS）. 27 microsateUite polymorphisms from DRD2 ,DRD3 ,DRD4, DAT1 ,COMT,5-HTR2A,5-HTT gene region were determined after the polymerase chain reaction. Nonparametric linkage analysis was performed. Results： The LOD score of all the microsatellite markers did not reach 1.2, which was the liminal value of indicative linkage. Concision： The results are uncertain whether the DRD2, DRD3, DRD4, DAT1 ,COMT ,5-HTR2A ,5-HTT gene are associated with obsessive compulsive spectrum disorders.