Objective: To investigate the distribution of genotype and allele frequencies of the dopamine D4 receptor(DRD4) gene exon 3 48 bp variable number of tandem repeats polymorphism in Hunan Han population.

Methods: The genotype and alleles of 304 healthy persons were examined with polymerase chain reaction, denaturing polyacrylamide gel electrophoresis and silver staining.

Results: Seven alleles and twelve genotypes were found. The most common allele was allele 5 with a frequency of 70.6%. There was statistically significant difference in allele distribution between the Hunan Han population and the Han population of other regions such as Shanghai, Beijing and Sichuan in China (P< 0.05). Different allele frequency distributions were observed when compared to other ethnic populations such as Japanese, American, Mexican, and Italian (P< 0.05).

Conclusion: The distributions of allele of DRD4 gene exhibit regional and ethnic heterogeneity.

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