Human Genetics

, Volume 60, Issue 1, pp 32–35

Evidence for duplication of the human salivary amylase gene

Authors

  • Jan C. Pronk
    • Institute of Human GeneticsFree University of Amsterdam
  • Rune R. Frants
    • Institute of Human GeneticsFree University of Amsterdam
  • Wim Jansen
    • Institute of Human GeneticsFree University of Amsterdam
  • Aldur W. Eriksson
    • Institute of Human GeneticsFree University of Amsterdam
  • Gerard J. M. Tonino
    • Department of Oral BiochemistryState University of Utrecht
Original Investigations

DOI: 10.1007/BF00281260

Cite this article as:
Pronk, J.C., Frants, R.R., Jansen, W. et al. Hum Genet (1982) 60: 32. doi:10.1007/BF00281260

Summary

Isoelectric focusing of human parotid saliva reveals different α-amylase patterns reflecting qualitative and quantitative variations. A puzzling pattern, which shows three different amylase gene products, was found in four individuals. Based on this observation a model is presented in which the salivary amylase gene is duplicated. Family studies show that the AMY1*A2 gene forms a haplotype with the normal gene, AMY1*A1, whereas the AMY1*A3 gene still exists in a single form. The absence of homozygote 2-2 in offspring of 1-2x1-2 marriages and in population material, and the fact that the variant protein makes up about only 20–30% of the total amylase protein in heterozygotes can be considered as additional evidence supporting the hypothesis. The possibility that cis-acting regulatory variants are involved in the patterns with quantitative variation is discussed.

Copyright information

© Springer-Verlag 1982