Human aldehyde dehydrogenase-5 gene (originally named asALDHX) is expressed in liver and testis. TheALDH5does not contain introns in the coding sequence for 517 amino acid residues. Within a short nucleotide region of the gene, the following three nucleotide changes were found in high frequencies, i.e., a silent C↔T at nucleotide (nt) 183, C↔T at nt 257 associated with a Val↔Ala substitution, and T↔G at nt 320 associated with a Arg↔Leu substitution. The frequency of C at nt 183 is 81 in Caucasians and 65 in Japanese, and the difference is statistically not significant. The frequency of C at nt 257 is 76 in Caucasians and 55 in Japanese, and the difference is statistically significant (P= 0.02). The frequency of T at nt 320 is 71 in Caucasians, while it is only 27 in Japanese. The racial difference at nt 320 is highly significant (P<0.001). No significant difference was found in the genotypes of the three nucleotide positions between alcoholic and nonalcoholic Caucasians within the limited numbers of subjects
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