Human pancreatic amylase polymorphism: Formal genetics and population genetics

Abstract
The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We, investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles AMY 2 1 , AMY 2 2 and possibly two rare alleles AMY 2 3 , AMY 2 4 at an autosomal locus AMY2. The frequency of the AMY 2 1 allele, was calculated as 0.951; AMY 2 3 and AMY 2 4 seem to have a frequency of 0.001 in this sample.