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
  • 34 Downloads

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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Blin H, Stafford DW (1976) A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 3:2303–2308Google Scholar
  2. Hsu LC, Chang W-C (1991) Cloning and characterization of a new functional human aldehyde dehydrogenase gene. J Biol Chem 266:12257–12265Google Scholar
  3. Saiki RK, Gelfand DH, Stoffel SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491PubMedGoogle Scholar
  4. Yoshida A, Hsu LC, Yasunami M (1991) Genetics of human alcohol-metabolizing enzymes. Prog Nucleic Acid Res Mol Biol 40:255–287Google Scholar

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

Personalised recommendations