title: Erythrocyte pyruvate kinase deficiency in the Ohio Amish: origin and characterization of the mutant enzyme.
abstract: We have identified eight individuals in an Amish population in Geauga County, Ohio, who have a congenital hemolytic anemia and red cell pyruvate kinase (PK) deficiency. The mutant enzyme is a low Km phosphoenolpyruvate (PEP) variant associated with a slower (77.5% of normal) electrophoretic mobility in starch gel. Because of the high consanguinity in this population, we assume the affected individuals are homozygous for the mutant gene. Genealogical records allow us to trace all eight cases back to a common ancestor who lived in Mifflin County, Pennsylvania. His sister was a common ancestor to all cases of PK deficiency originally described in the Pennsylvania Amish isolate. Therefore, all cases of PK deficiency in the Amish arose from a common ancestral pair.
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics*; D002675:Child, Preschool; D002835:Christianity; D003241:Consanguinity; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009820:Ohio; D010375:Pedigree; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics
chemical_list: D011770:Pyruvate Kinase