The frequency in Japanese of genetic variants of 22 proteins II. Carbonic anhydrase I and II, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, triose phosphate isomerase, haemoglobin A and haemoglobin A2.
This paper presents the results of a survey of Japanese for electrophoretic variants of CA I, CA II, LDH, MDH, TPI, NP, HB A and A2, the number of determinations per system ranging from 738 to 4029. Four similar variants of CA I (designed CA IHIR1), one of LDH (designated LDHNGS1), one of MDH (designated MDHS 7HIR1), two of HB A (one a reascertainment of HB Hijiyama, the other not characterized), and one characterized by the absence of HB A2 (delta-thalassaemia) were observed and are described. The CA IHIR1, LDHNAG1 and MDHS 2HIR1 variants have not been previously observed in Japan. No electrophoretic variants were found in the TPI and NP systems.
D000328:Adult; D002256:Carbonic Anhydrases / Q000302:isolation & purification; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism*; D014644:Genetic Variation; D006441:Hemoglobin A / Q000302:isolation & purification; D006454:Hemoglobins / Q000302:isolation & purification; D006801:Humans; D007564:Japan; D007770:L-Lactate Dehydrogenase / Q000302:isolation & purification; D008291:Malate Dehydrogenase / Q000302:isolation & purification; D009699:N-Glycosyl Hydrolases / Q000302:isolation & purification; D014305:Triose-Phosphate Isomerase / Q000302:isolation & purification
D006454:Hemoglobins; D006441:Hemoglobin A; D007770:L-Lactate Dehydrogenase; D008291:Malate Dehydrogenase; D009699:N-Glycosyl Hydrolases; D002256:Carbonic Anhydrases; D014305:Triose-Phosphate Isomerase