Abstract: AIM: Detection of UGT2B7 G211T and UGT1A9 C-2152T variant alleles, and knowledge about their allelic frequency in a Chinese population. METHODS: To determine the allelic frequency of the UGT1A9 C-2152T in a group of 100 Chinese male subjects by using of touch-down polymerase chain reaction-restriction fragment length polymorphism (Touch-down PCR RFLP) assays.To determine the allelic frequency of the UGT2B7 G211T mutant in a group of 363 Chinese subjects by using of polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) assays. RESULTS: The frequency of the UGT1A9 C-2152T mutant allele was rare in a Chinese population which was similar to that of Asian people.In a group of 363 unrelated individuals, the frequency of the UGT2B7 G211T mutant in Chinese population was 0.158, which was similar to that of Japanese.The allelic frequency in Chinese male was 0.128, which was statistically higher than that of Chinese female 0.110. CONCLUSION: We have found a PCR-RFLP assay for genotyping UGT2B7 G211T mutant.This straightforward and prompt PCR-RFLP assay has a good reproducibility, and therefore can be used to genotype for the UGT2B7 G211T polymorphism in a large population samples.The frequency of the UGT2B7 G211T mutant allele is high in a Chinese population.

Key words: UGT1A9, UGT2B7, mutant, genotype