title: Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene.
abstract: Human aldehyde dehydrogenase-5 gene (originally named as ALDHX) is expressed in liver and testis. The ALDH5 does 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 examined.
authors.affiliation: Department of Clinical Biochemistry, King's College School of Medicine and Dentistry, London, UK.
authors.forename: D
authors.initials: D
authors.lastname: Sherman
authors.forename: V
authors.initials: V
authors.lastname: Davé
authors.forename: L C
authors.initials: LC
authors.lastname: Hsu
authors.forename: T J
authors.initials: TJ
authors.lastname: Peters
authors.forename: A
authors.initials: A
authors.lastname: Yoshida
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9; D005787:Gene Frequency; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D008108:Liver Diseases, Alcoholic / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D000444:Aldehyde Dehydrogenase