中国健康汉族人孕烷X受体的基因多态性

Genetic variants of pregnane X receptor in Chinese healthy Han

目的研究中国健康汉族人孕烷X受体的基因突变情况,并与高加索人和非洲裔美国人突变频率进行比较。方法PCR扩增后直接测序。结果在中国汉族人未发现已报道的PXR*2,3,4突变,与非洲裔美国人的PXR*2,3的基因型频率比较有显著性差异;A11156C与T11193C突变基因频率分别为45.5%,41.5%,与高加索人和非洲裔美国人的基因频率比较有显著性差异。结论中国健康汉族人与高加索人、非洲裔美国人比较,突变基因频率均有明显种族差异。

Objective To detect the polymorphisms of pregnane X receptor（PXR） in Chinese Han and compare the frequencies of polymorphisms of PXR in Chinese Han with those reported in Caueasions and Africa Americans. Methods The polymorphisms of PXR were analyzed by the polymerase chain reaction （PCR） - direct sequencing. Results The reported SNPs in exon 2 and exon 4 （PXR ＊ 2, 3,4） were not detected in Chinese Han. Whilst the frequencies of A11156C and T11193C in Chinese Han were 45.4% and 41.5% , respectively, lower than that of American Caucasians and African Americans. Conclusion There are marked ethnic difference in the mutant frequencies of A11156C, T11193 C and PXR ＊ 2, 3,4, between Chinese Han and American Caucasians/African Americans.