title: 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 AMY1/2, AMY2/2 and possibly two rare alleles AMY3/2, AMY4/2 at an autosomal locus AMY2. The frequency of the AMY1/2 allele was calculated as 0.951; AMY3/2 and AMY4/2 seem to have a frequency of 0.001 in this sample.
mesh_terms: D000483:Alleles; D000681:Amylases / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D010179:Pancreas / Q000201:enzymology*; D010641:Phenotype; D011110:Polymorphism, Genetic; D000516:alpha-Amylases / Q000235:genetics*
chemical_list: D007527:Isoenzymes; D000681:Amylases; D000516:alpha-Amylases