Human Genetics

, Volume 92, Issue 5, pp 477–480

Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene

  • David Sherman
  • Vibha Davé
  • Lily C. Hsu
  • Timothy J. Peters
  • Akira Yoshida
Original Investigations

DOI: 10.1007/BF00216454

Cite this article as:
Sherman, D., Davé, V., Hsu, L.C. et al. Hum Genet (1993) 92: 477. doi:10.1007/BF00216454

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.

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • David Sherman
    • 1
  • Vibha Davé
    • 2
  • Lily C. Hsu
    • 2
  • Timothy J. Peters
    • 1
  • Akira Yoshida
    • 2
  1. 1.Department of Clinical BiochemistryKing's College School of Medicine and DentistryLondonUK
  2. 2.Department of Biochemical GeneticsBeckman Research Institute of the City of HopeDuarteUSA