摘要目的:对中国西北地区接受丙泊酚麻醉的汉族手术患者细胞色素氧化酶P450超家族（cytochrome P450 proteins, CYP）2B6（516G>T）基因多态性进行回顾，明确与丙泊酚相关的基因突变率。方法:选择2019年5月至2019年11月期间在空军军医大学西京医院接受丙泊酚麻醉的西北地区汉族患者2 250例（男性830例，女性1 420例），对其CYP2B6（516G>T）基因多态性检测结果进行回顾，分析不同基因型分布及性别对基因型分布的影响，同时与国内外不同地区该基因的分布情况进行比较。结果:检测位点191CYP2B6（516G>T）三种基因型野生纯合子（GG）、突变杂合子（GT）和突变纯合子（TT）的分布分别占总例数的68.35%、28.62%、3.02%。男性和女性各基因型分布差异无统计学意义（ P>0.05）。中国西北地区汉族患者中突变的T等位基因频率与中国东北地区、日本地区患者及中国蒙古族、藏族患者相似（ P>0.05），而大部分白色人种和黑色人种的CYP2B6突变T等位基因频率均高于中国西北地区汉族患者（ P<0.05）。 结论:中国西北地区汉族患者中与丙泊酚用量相关的CYP2B6（516G>T）基因位点突变率约1/3，该类人群使用丙泊酚全身麻醉时需适当减少剂量。同时国内外不同人群对比提示该基因多态性与种族差异具有相关性。

abstractsObjective:To review the genetic polymorphism of cytochrome P450 proteins (CYP) 2B6 (516G>T) in Han population under anesthesia with propofol in Northwest China, and to identify the genetic mutation frequency associated with propofol.Methods:A total of 2 250 Han patients (830 men and 1 420 women) from Northwest China who underwent anesthesia with propofol in Xijing Hospital, Air Force Medical University, from May 2019 to November 2019 were enrolled. Their data about genetic polymorphism of CYP2B6 (516G>T) was retrospectively analyzed. The effects of genotype frequency and sex on genotype distribution were analyzed. The distribution of the genotype in different areas around the world was compared.Results:At 191CYP2B6 loci (516G>T), the frequency was 68.36% for GG genotype, 28.62% for GT genotype and 3.02% for TT. There was no difference as to the distribution of each genotype between male and female patients ( P>0.05). The resultant frequency of T allele in Han population of Northwest China was similar to those in Northeast China and Japan, and also was similar to Mongolian and Tibetan ethnic patients in China ( P>0.05), but most of white and black patients showed a higher frequency of mutant T allele than Han patients of Northwest China ( P<0.05). Conclusions:The mutation percentage of CYP2B6 (516G>T) gene loci related to propofol is about 1/3 in Han patients in Northwest China, which suggests proper reduction of propofol dosage for those patients under general anesthesia with propofol. Meanwhile, this gene polymorphism is correlated with ethnic differences through comparison of different populations around the world.