Stefan Prause, Moritz Eidens, Alexander Weise, Weber Matthias, Norbert Dahmen, Annette Wunsch, Thomas Forst, Andreas Pfützner
PharmGenomics GmbH, Mainz, Germany.
Clin Lab. 2009;55(9-10):353-8.
The human dopamine receptor D2 (DRD2) is known to be involved in several mental disorders. A series of studies revealed that the polymorphisms *TaqIA and *C957T are linked to these disorders and might influence drug response.
Screening methods were established for the *TaqIA and *C957T polymorphisms. In the past, the technique of choice has been the time and resource consuming PCR with restriction fragment length polymorphism (PCR-RFLP). It served as the reference method for this investigation.
A protocol was successfully developed for detecting *C957T and *TaqIA on the Roche LightCycler system. In addition, an allele frequency study was conducted comparing 98 samples from healthy and 86 samples from mentally disordered subjects for the *C957T and *TaqIA polymorphisms. Allele frequencies in the healthy population turned out to be 50% for the *C957T and 18% for the *TaqIA polymorphism. In the mentally disordered group, allele frequencies occurred with 54% for the *C957T and with 21% for the *TaqIA polymorphism.
The protocol developed for identifying the *C957T and *TaqIA polymorphisms is suitable for high-throughput screening. Findings of the allele frequency study did not reveal any significant difference in the prevalence of the investigated polymorphisms.
已知人类多巴胺受体D2（DRD2）与多种精神障碍有关。一系列研究表明，TaqIA和C957T多态性与这些障碍相关，并且可能影响药物反应。
建立了针对TaqIA和C957T多态性的筛查方法。过去，首选技术是耗时且耗费资源的限制性片段长度多态性聚合酶链反应（PCR-RFLP）。它作为本研究的参考方法。
成功开发了一种在罗氏LightCycler系统上检测C957T和TaqIA的方案。此外，进行了一项等位基因频率研究，比较了98例健康受试者和86例精神障碍受试者的样本中C957T和TaqIA多态性。健康人群中*C957T的等位基因频率为50%，*TaqIA多态性为18%。在精神障碍组中，*C957T的等位基因频率为54%，*TaqIA多态性为21%。
开发的用于鉴定C957T和TaqIA多态性的方案适用于高通量筛查。等位基因频率研究结果未显示所研究多态性的患病率有任何显著差异。
