中国汉族健康人群UGT2B7的基因多态性

Genetic polymorphisms of UGT-glucurono-syltransferase 2B7 in Chinese healthy Han population

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。

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 UGT2B7 were analyzed by the polymerase chain reaction （PCR） -direct sequen- cing. 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 GCTGGTI＇, GCTTGTI＇, and ATYGACC were 48.0%, 10. 4%, 32.6%, respectively. Conclu- sion 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 dise- quilibrium. The frequency of these variants was high in Chinese healthy Han population. The frequency of GCTGGTI＂ haplotype was high as well.