Epidemiological study on isozyme variants of aldehyde dehydrogenase and alcoholism.

1)人唾液中乙醛脱氢酶的多态性研究在人唾液中发现了一种新的乙醛脱氢酶同工酶，其酶谱不同于以往报道的乙醛脱氢酶Ⅰ、Ⅱ、Ⅲ、Ⅳ。组织中唾液AIDH亚基的pI、Km值和分子量的生化表征。抗唾液AIDH的特异性抗血清对ALDH I、II、III和IV不产生沉淀。为了证实可能存在一个新的基因座编码的等位基因ALDHV，共15个单卵双生子家庭进行了调查，以确定唾液ALDHV表型。这些数据支持至少存在两个被分类为ALDH正常和缺陷的等位基因来确定ALDH V表型。酒精中毒者ALDH V正常率（87.4%）明显高于健康对照组（P <0.01），ALDH缺乏率（12.6%）明显低于健康对照组（P<0.01）。这一发现可能支持唾液ALDH是酒精滥用的一个可能的遗传标记。2）线粒体乙醛脱氢酶和乙醛代谢的基因型。应用先进的DNA分析技术检测了41名日本健康人线粒体乙醛脱氢酶（ALDH_2）基因座的基因型，并用气相色谱法研究了他们饮酒后的乙醛代谢。此外，还比较了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。酒精摄入后不同浓度的血液乙醛（1 ml威士忌/kg.结果表明，ALDH_2基因型与体重的相关性最高。ALDH^1_纯合子基因型浓度最低（4.9 <plus-minus>± 1.7 μ M）。ALDH^1_和ALDH^2_杂合基因型的受试者血浆浓度（24.6 ± <plus-minus>8.4 μ M）低于ALDH^2_纯合基因型的受试者（71.2 <plus-minus>± 32.3 μ M）。酒精中毒组ALDH^2_基因频率显著低于健康对照组（P&lt;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).