Evidence for duplication of the human salivary amylase gene

✍ Scribed by Jan C. Pronk; Rune R. Frants; Wim Jansen; Aldur W. Eriksson; Gerard J. M. Tonino

• Publisher: Springer
• Year: 1982
• Tongue: English
• Weight: 478 KB
• Volume: 60
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00281260

✦ Synopsis

Isoelectric focusing of human parotid saliva reveals different alpha-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 1-2 X 1-2 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.