不同基因型的人类乙醛脱氢酶2基因的克隆及表达(英文)  

Cloning and Expression of Different Genotypes of Human Aldehyde Dehydrogenase 2 Gene

作　　者：李青松[1] 李一峰[1] 邵敏华[1] 金建中[1] 金力[1] 卢大儒[1] 

机构地区：[1]复旦大学生命科学学院遗传学研究所遗传工程国家重点实验室,上海200433

出　　处：《复旦学报（自然科学版）》2004年第6期1079-1083,共5页Journal of Fudan University：Natural Science

摘　　要：乙醛脱氢酶2是细胞防御系统的重要组成部分,它催化各种对人体有害的醛类成相应的酸.实验证明,东亚人群中存在大量的突变基因型aldh2 2,且aldh2 2基因型与酒后宿醉程度(脸红及不适感)相关.本实验采用昆虫细胞表达系统sf9高效表达ALDH2和ALDH2 2,并分别检测两种蛋白对底物乙醛的催化活性,发现二者对乙醛的催化活性差异显著,其中ALDH2的Km为1.70μmol/L,而ALDH2 2的Km为61.56μmol/L,支持了前人关于ALDH2的遗传缺陷可能导致醉酒及酒后不适感的结论.Aldehyde dehydrogenase 2 (ALDH2) plays an important role in the cellular defense against toxic aldehydes for its ability to catalyze the oxidation of various aliphatic and aromatic aldehyde to the corresponding acids. It was reported that a high-frequency of mutant aldh2 allele (aldh2*2) existed in Asian population and the inherited deficiency of aldh2 may be the cause of the flushing syndrome and the uncomfortable effects of drinking alcohol. In this experiment, we successfully expressed ALDH2 and ALDH2*2, and identified the enzymatic activity of the two products for acetaldehyde. Their K_ms were 1.70μmol/L and 61.56 μmol/L respectively. This result supports the previous conclusion that the inherited deficiency of aldh2 is associated with the flushing syndrome and uncomfortable effects of drinking alcohol.

关 键 词：乙醛脱氢酶 酒后 表达系统 基因型 遗传缺陷 人群 昆虫细胞 高效表达 克隆 人类 

分 类 号：Q786[生物学—分子生物学]