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Evidence for duplication of the human salivary amylase gene

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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.

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Authors and Affiliations

  1. Institute of Human Genetics, Free University of Amsterdam, P. O. Box 7161, 1007 MC, Amsterdam, The Netherlands

    Jan C. Pronk, Rune R. Frants, Wim Jansen & Aldur W. Eriksson

  2. Department of Oral Biochemistry, State University of Utrecht, P. O. Box 8080, 3508 TB, Utrecht, The Netherlands

    Gerard J. M. Tonino

Authors
  1. Jan C. Pronk
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  2. Rune R. Frants
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  3. Wim Jansen
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  4. Aldur W. Eriksson
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  5. Gerard J. M. Tonino
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Pronk, J.C., Frants, R.R., Jansen, W. et al. Evidence for duplication of the human salivary amylase gene. Hum Genet 60, 32–35 (1982). https://doi.org/10.1007/BF00281260

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  • DOI: https://doi.org/10.1007/BF00281260

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