Harada S, Misawa S, Agarwal D P, Goedde H W
Am J Hum Genet. 1980 Jan;32(1):8-15.
Forty autopsy livers from Japanese individuals were studied concerning alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) isozymes using electrophoretic and enzyme assay methods. A remarkably high frequency (85%) was found for the atypical ADH phenotype. The gene frequencies of ADH22 and ADH32 were .625 and .05, respectively. The usual ALDH phenotype showed two major isozyme bands, a faster migrating (low Km for acetaldehyde) and a slower migrating isozyme (high Km for acetaldehyde). Fifty-two percent of the specimens had an unusual phenotype of ALDH, which showed only the slower migrating isozyme. The usual phenotype was inhibited about 20%--30% by disulfiram and the unusual type up to 90%. Such a high incidence in the Japanese of the unusual phenotype, which lacks in the low Km isozyme, suggests that the initial intoxicating symptoms after alcohol drinking in these subjects might be due to delayed oxidation of acetaldehyde rather than its higher-than-normal production by typical or atypical ADH.
采用电泳和酶测定方法,对40例日本人的尸检肝脏进行了酒精脱氢酶(ADH)和乙醛脱氢酶(ALDH)同工酶的研究。发现非典型ADH表型的频率非常高(85%)。ADH22和ADH32的基因频率分别为0.625和0.05。通常的ALDH表型显示出两条主要的同工酶带,一条迁移较快(对乙醛的Km值低)和一条迁移较慢的同工酶(对乙醛的Km值高)。52%的标本具有不寻常的ALDH表型,仅显示迁移较慢的同工酶。通常的表型被双硫仑抑制约20% - 30%,而不寻常的类型被抑制高达90%。在日本人中这种缺乏低Km同工酶的不寻常表型的高发生率表明,这些受试者饮酒后的初始中毒症状可能是由于乙醛氧化延迟,而不是由典型或非典型ADH产生的高于正常水平的乙醛。