UGT1A9 C-2152T和UGT2B7 G211T突变在中国汉族人群中的分布

Distribution of UGT1A9 C-2152T and UGT2B7 G211T mutants in Chinese Han population

目的:建立Touch-down PCR/RFLP的方法检测UGT1A9C-2152T突变,建立PCR/RFLP的方法检测UGT2B7G211T突变,确定其在中国汉族人群中的突变频率。方法:采用Touch-down PCR/RFLP方法,对100名无亲缘关系的汉族男性志愿者进行UGT1A9C-2152T的基因分型。采用PCR/RFLP方法,对363名无亲缘关系的汉族志愿者(其中男性263名、女性100名)进行UGT2B7 G211T的基因分型。结果:在100名中国汉族男性受试者中,末发现UGT1A9C-2152T的突变,与亚洲人通过测序报道的结果基本一致。在363名汉族受试者中,UGT2B7G211T突变发生频率为0.158,与日本人通过测序报道的结果基本一致。中国男性和女性的等位基因频率分别为0.128和0.110,男性的突变频率比女性高(χ2=6.784,P=0.034)。结论:用PCR/RFLP的方法对UGT2B7 G211T突变分型的方法简便、快速、重复性好,可用于大样本人群的基因检测。UGT2B7G211T突变在中国汉族人中发生频率较高。

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 tmrelated 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.