PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system.
Phosphoglucose isomerase (PGI) and 16 other biochemical genetic markers were studied in an Israeli-Arab family previously described for hereditary deficiency of adenylate kinase (AK) and glucose 6-phosphate dehydrogenase (G6PD). In this inbred family a rare PGI*3 allele was observed in 11 of 32 members tested, indicating an autosomal codominant inheritance. The electrophoretic mobility of this allele is similar to that of the PGI*3 allele found in Indian populations, but unlike the Indian allele, it has a very low specific activity and heat stability. This PGI*3 allele, designated PGI*3 (Israel), seems to be a different unstable mutation and along with AK and G6PD deficiencies seems to be associated with severe anaemia.
D000483:Alleles; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D004795:Enzyme Stability; D005260:Female; D005819:Genetic Markers; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics*; D007557:Israel; D008297:Male; D009154:Mutation; D010641:Phenotype
D005819:Genetic Markers; D007527:Isoenzymes; D005956:Glucose-6-Phosphate Isomerase