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人类乙醇脱氢酶β1和β2的基因仅相差一个核苷酸。

The genes for human alcohol dehydrogenases beta 1 and beta 2 differ by only one nucleotide.

作者信息

Matsuo Y, Yokoyama R, Yokoyama S

机构信息

Department of Ecology, Ethology and Evolution, University of Illinois, Urbana-Champaign 61820.

出版信息

Eur J Biochem. 1989 Aug 1;183(2):317-20. doi: 10.1111/j.1432-1033.1989.tb14931.x.

DOI:10.1111/j.1432-1033.1989.tb14931.x
PMID:2547609
Abstract

Allelic differences at the alcohol dehydrogenase (ADH) and aldehyde dehydrogenase loci may have an important role in an individual's alcohol sensitivity. We have cloned and sequenced all nine exons of an ADH2(2) allele which codes for an 'atypical' ADH, ADH beta 2. Our sequence data shows that the histidine at residue 47 of ADH beta 2 is encoded by CAC. Surprisingly, no silent substitution was found between the coding regions of ADH2(1) [Duester, G., Smith, M., Bilanchone, V. & Hatfield, G. W. (1986) J. Biol. Chem. 261, 2027-2033.] and ADH2(2) alleles over the 1122 nucleotide sites.

摘要

乙醇脱氢酶(ADH)和乙醛脱氢酶基因座的等位基因差异可能在个体对酒精的敏感性中起重要作用。我们已经克隆并测序了编码“非典型”ADH即ADHβ2的ADH2(2)等位基因的所有九个外显子。我们的序列数据表明,ADHβ2第47位残基处的组氨酸由CAC编码。令人惊讶的是,在1122个核苷酸位点上,ADH2(1) [Duester, G., Smith, M., Bilanchone, V. & Hatfield, G. W. (1986) J. Biol. Chem. 261, 2027 - 2033.] 和ADH2(2)等位基因的编码区域之间未发现沉默替换。

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