【摘要】 目的研究中国汉族健康人UGT2B7基因多态性及其单倍型的分布。方法用聚合酶链式反应和直接测序法,对160名无直接血缘关系的中国汉族健康受试者进行UGT2B7基因多态性检测,用Phase 2.1软件分析单倍型的分布频率。结果在-327 A>G、-161 T>C、802 C>T、2283 A>G和2316 A>G的分布频率均为34.1%,在-125 T>C和211 G>T的分布频率分别为5.26%,16.7%。GCTGGTT、GCTTGTT及ATTGACC单倍型的分布频率较高,分别为48.0%,10.4%,32.6%。结论 -327 A>G、-161 T>C、802 C>T、2283 A>G和2316 A>G在中国汉族健康人群中的分布存在连锁,其分布频率较高;GCTGGTT单倍型的分布频率最高。更多还原

【Abstract】 Objective To detect the polymorphisms and haplotype of UGT-glucurono-syltransferase 2B7( UGT2B7) in Chinese healthy Han population. Methods One hundred and sixty Chinese Han healthy volunteers were entrolled in this study. The polymorphisms of UGT2B7were analyzed by the polymerase chain reaction( PCR)-direct sequencing. The haplotype frequencies were analyzed by Phase 2. 1. Results The frequency distribution of UGT2B7 variations in the-327 A > G,-161 T > C,802 C > T,2283 A > G and 2316 A > G was 34. 1%; in the-125 T > C,and 211 G > T were 5. 26%,16. 7%,respectively. The frequency distribution of UGT2B7 haplotype of GCTGGTT,GCTTGTT,and ATTGACC were 48. 0%,10. 4%,32. 6%,respectively. Conclusion The polymorphisms of-327 A > G,-161 T > C,802 C > T,2283 A > G and 2316 A > G in UGT2B7 gene were not in linkage disequilibrium. The frequency of these variants was high in Chinese healthy Han population. The frequency of GCTGGTT haplotype was high as well.更多还原