HUMAN PANCREATIC ALPHA-AMYLASE - PHENOTYPIC CO-DOMINANCE AND NEW ELECTROPHORETIC VARIANTS

  • 1 January 1978
    • journal article
    • research article
    • Vol. 30  (4) , 434-441
Abstract
The genetic heterogeneity of human pancreatic .alpha.-amylase (.alpha.-1,4-glucan 4-glucanohydrolase, EC 3.2.1.1) was better defined through the development of an asparagine buffered electrophoretic gel system. Three alleles were identified for the pancreatic amylase locus, AMY2, with 2 variant alleles as autosomal dominant traits on Tris HCl buffered sheet gels. The asparagine buffered sheet gel now allows the differentiation of the genotypes AMY2B/AMY2B, AMY2B/AMY2A, and AMY2B/AMY2C, classifying these 3 alleles as codominants. Asparagine buffered polyacrylamide gels and thin layer polyacrylamide isoelectric focusing aided in the identification of 3 new pancreatic amylase variants: AMY2D, AMY2E, and AMY2F. AMY2E was identified only in AMY2B and AMY2E individuals. This allele is proposed as a quantitative activity variant with essentially the same electrophoretic mobility as AMY2A. The other new autosomal variants were each identified in single white families. AMY2D is dominant and AMY2F is a codominant trait as shown on thin layer polyacrylamide isoelectric focusing gels.