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Genotyping the ‐521C/T functional polymorphism in the promoter region of dopamine D4 receptor (DRD4) gene
Author(s) -
Ronai Zsolt,
Barta Csaba,
Guttman András,
Lakatos Krisztina,
Gervai Judit,
Staub Maria,
SasvariSzekely Maria
Publication year - 2001
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/1522-2683()22:6<1102::aid-elps1102>3.0.co;2-3
Subject(s) - genotyping , polymorphism (computer science) , genetics , gene , biology , receptor , dopamine , microbiology and biotechnology , genotype , neuroscience
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 Fsp I 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.