Electrophoretic variants of blood proteins in Japanese. III. Triosephosphate isomerase.
A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encountered in this population. These variants were further characterized by starch gel electrophoresis using tris-EDTA buffer, pH 9.3, and isoelectric focusing. An anodally migrating allozyme TPI 2HR1 exhibited markedly decreased enzyme activity, as evaluated by the staining intensity of the variant bands. The level of TPI activity in erythrocytes from this individual with the phenotype TPI 1-2HR1 was about 60% of the normal mean. Family studies confirmed the genetic nature of all the variants.
D002238:Carbohydrate Epimerases / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007526:Isoelectric Point; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D014305:Triose-Phosphate Isomerase / Q000097:blood / Q000235:genetics*
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase