High-throughput genotyping of repeat polymorphism in the regulatory regionof serotonin transporter gene by gel microchip electrophoresis

Large-scale, genotyping of the repeat polymorphism in the regulatory region of the serotonin transporter gene (5-HTTLPR) was attempted by polymerase c hain reaction (PCR) amplification followed by gel microchip electrophoresis analysis. The multilane (96) format of the gel microchip system allowed pa rallel separation of a large number of samples. The separation and visualiz ation of the PCR amplicons from either the 5-HTTLPR short allele (number of repeats are 14) or the 5-HTTLPR long. form (16 repeats) was completed in a few minutes. Genotyping of healthy Caucasian individuals viduals showed th at the short allele had a somewhat lower frequency (0.42) than the long for m (0.58), and the genotype frequencies fulfilled the criteria of the Hardy- Weinberg equilibrium (chi = 0.012, p = 0.994). Based on these results, gel microchip electrophoresis system proved to be, a powerful tool for high thr oughput genotyping of repeat polymorphism.