Advances in Human Genetics 15 pp 249-290
Genetics of Human Alcohol and Aldehyde Dehydrogenases
During the past 5 years considerable progress has been made in the elucidation of the biochemical genetics of human alcohol dehydrogenases (ADH) and human aldehyde dehydrogenases (ALDH). In particular, progress has been made in determining the number of gene loci coding for these enzymes and the tissue distribution of the enzymes. In addition, a number of allelic variants of specific forms of alcohol and aldehyde dehydrogenases have been described. Studies have been done on different population groups to determine the frequencies of some of these variants. The relationship of the presence of variant forms of alcohol and aldehyde dehydrogenases to altered alcohol tolerance has been investigated. Efficient procedures for purifying alcohol and aldehyde dehydrogenases have been defined. As a result, detailed studies on the kinetics of separated isozymes and amino acid sequence determinations have been possible. To date, complete amino acid sequence data have been obtained for three ADH isozymes and one ALDH isozyme, while partial amino acid sequence data have been published on a second ALDH isozyme. Antibodies to specific forms of aldehyde dehydrogenase have been used to determine the nature of the genetic variation in mitochondrial ALDH.
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