Genotyping the -521C/T functional polymorphism in the promoter of region of dopamine D4 receptor (DRD4) gene

Zsolt Ronai, Csaba Barta, Andrs Guttman, Krisztina Lakatos, Judit Gervai, Maria Staub, Maria Sasvari-Szekely

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28 Citations (Scopus)


The -521C/T single nucleotide polymorphism (SNP) in the promoter region of the dopamine D4 receptor gene (DRD4) has recently been detected in oriental (Japanese) individuals and related to novelty seeking and schizophrenia. Here, we report the analysis of the -521C/T polymorphism in a Caucasian (Hungarian) population using two independent genotyping methods. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) procedure utilized the Fspl restriction site around the -521 position. An additional, nonpolymorphic cleavage site was also included into the amplified region to serve as an internal standard for verifying the completion of the digestion. As another independent method, a tetraprimer system for single-tube allele-specific PCR (SAS-PCR) was developed to generate -521C and -521T specific PCR products with different fragment sizes. Consequently, genotyping with SAS-PCR is based on the gel-electrophoretic separation of the allele-specific double-stranded DNA (dsDNA) fragments. 119 healthy Hungarian individuals were genotyped for -521C/T polymorphism of the dopamine D4 promoter region, using both methods. Similar allele frequencies were found (-521C allele: 0.43; -521T allele: 0.57) as reported earlier for the Japanese population.

Original languageEnglish
Pages (from-to)1102-1105
Number of pages4
Issue number6
Publication statusPublished - Jan 1 2001



  • Bidirectional allele-specific amplification
  • Dopamine D4 receptor gene
  • Genotyping
  • Promoter
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Analytical Chemistry
  • Biochemistry
  • Clinical Biochemistry

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