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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 study the polymorphism of UGT2B7 gene and its haplotype distribution in Chinese healthy Han people. Methods Polymerase chain reaction (PCR) and direct sequencing were used to detect the polymorphism of UGT2B7 gene in 160 Chinese Han healthy subjects without direct blood relationship. The distribution frequency of haplotypes was analyzed by Phase 2.1 software. Results The distribution frequencies of -327 A> G, -161 T> C, 802 C> T, 2283 A> G and 2316 A> G were 34.1% Respectively 5.26%, 16.7%. The distribution frequencies of GCTGGTT, GCTTGTT and ATTGACC haplotype were higher, 48.0%, 10.4% and 32.6% respectively. Conclusion The distributions of -327 A> G, -161 T> C, 802 C> T, 2283 A> G and 2316 A> G in Chinese healthy population are linked and their distribution frequency is higher. The distribution of GCTGGTT haplotype The highest frequency.