Epidemiological study on isozyme variants of aldehyde dehydrogenase and alcoholism.

1)人唾液醛脱氢酶多态性在人唾液中发现了一种新的ALDH同工酶，其同工酶模式与以往报道的ALDH I、II、III、IV不同。组织中唾液AIDH亚基pI、Km值和分子量的生化表征。唾液ALDH特异性抗血清对ALDH I、II、III和IV均无沉淀。为了证实ALDH V等位基因可能存在新的基因座，我们对15个同卵双胞胎家族进行了唾液ALDH V表型测定。这些数据支持至少存在两个ALDH正常和ALDH缺陷等位基因来决定ALDH V的表型。酒精中毒患者ALDH V正常率（87.4%）高于正常对照组，ALDH V缺乏率（12.6%）低于正常对照组（P<0.01）。这一发现可能支持唾液ALDH可能是酒精滥用的遗传标记。2)线粒体醛脱氢酶和乙醛代谢基因型。采用先进的DNA分析技术测定了41例健康日本人线粒体醛脱氢酶（ALDH_2）位点的基因型，并用气相色谱仪测定了他们饮酒后的乙醛代谢情况。并比较了41名健康对照者和50名日本酗酒者的ALDH^1_和ALDH^2_基因频率。酒精摄入后（1 ml威士忌/kg）血液中乙醛的浓度不同。3种ALDH_2基因型在健康对照中均有明显差异。纯合子基因型ALDH^1_的浓度最低（4.9<正负>1.7muM）。ALDH^1_和ALDH^2_杂合子基因型的浓度（24.6<正负>8.4muM）低于ALDH^2_纯合子基因型的浓度（71.2<正负>32.3muM）。酗酒者ALDH^2_基因频率显著低于健康对照组（P<0.01）。

1) POLYMORPHISM OF ALDEHYDE DEHYDROGENASE IN HUMAN SALIVA A new ALDH isozyme was found in human saliva showing different isozyme pattern other than ALDH I, II, III, IV reported previously. Biochemical characterization concerning pI, Km values and molecular weight of the subunit for saliva AIDH in the tissues. A specific antiserum against saliva AIDH made no precipitate to ALDH I, II, III and IV. To confirm the possible existence of a new locus coding the allele of ALDH V, a total of 15 monozygotic twin families were investigated to determine the saliva ALDH V phenotypes. This data supported that at least two alleles classified as ALDH normal and deficient exist to determine the ALDH V phenotypes. The present data with alcoholics indicated that a higher frequency (87.4%) of ALDH V normal and a lower frequency (12.6%) of ALDH deficiency were found than those of healthy controls (P<0.01). This finding may support that saliva ALDH is a possible genetic marker of alcohol abuse.2) GENOTYPES OF MITOCHONDRIAL ALDEHYDE DEHYDROGENASE AND ACETALDEME METABOLISM. The genotypes of mitochondrial aldehyde dehydrogenase (ALDH_2) locus were determined using advanced technique for DNA analysis in 41 healthy Japanese and their acetaldehyde metabolism after alcohol intake was investigated using gaschromatograph. Moreover, the gene frequency of ALDH^1_ and ALDH^2_ were compared between 41 healthy controls and 50 Japanese alcoholics. Different concentration of blood acetaldehyde after alcohol intake (1 ml whiskey/kg. body weight) were found among the three genotypes of ALDH_2 from healthy controls. The homozygous genotype of ALDH^1_ showed the lowest concentration (4.9<plus-minus>1.7muM). The subjects showing heterozygous genotype of ALDH^1_ and ALDH^2_ had lower concentration (24.6<plus-minus>8.4muM) than that of homo zygous genotype of ALDH^2_ (71.2<plus-minus>32.3muM). The gene frequency of ALDH^2_ in alcoholics was significantly lower than that of healthy controls (P<0.01).