Genetic polymorphism of human peptidase C, PEPC (E.C.3.4.1.1): formal genetic and population data

Hum Genet. 1989 Sep;83(2):197-8. doi: 10.1007/BF00286718.

Abstract

Human peptidase C, PEPC (E.C.3.4.1.1), exhibits a previously undescribed genetic polymorphism, detectable in red cells or leukocytes by starch gel electrophoresis. Segregation analyses on 161 families with 469 offspring support the formal genetic hypothesis of two codominant alleles at an autosomal locus. Since four rare variants have previously been described, we named the polymorphic allele PEPC*6. Gene frequencies from southwestern Germany were PEPC*1 = 0.721 +/- 0.018; PEPC*6 = 0.276 +/- 0.018, and PEPC*R = 0.003 +/- 0.002.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Electrophoresis, Starch Gel
  • Gene Frequency
  • Genetics, Population
  • Humans
  • Peptide Hydrolases / blood
  • Peptide Hydrolases / genetics*
  • Polymorphism, Genetic*

Substances

  • Peptide Hydrolases
  • peptidase C