Development of a high-throughput method for screening the dopamine D2 (DRD2) receptor gene polymorphisms based on the LightCycler system
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Published on: January 27, 2014
Prause Stefan1, Eidens Moritz, Weise Alexander
1PharmGenomics GmbH, Mainz, Germany. stefan.prause@pharmgenomics.com
Background:
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.
Methods:
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.
Results:
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.
Conclusion:
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.

