Erythrocyte pyrimidine 5'-nucleotidase.
In this study 31 family members of a patient with erythrocyte pyrimidine 5'-nucleotidase deficiency were studied. The activity of this enzyme in their erythrocytes is compared with levels in normal subjects and the problems surrounding heterozygote detection are discussed. The mean erythrocyte pyrimidine 5'-nucleotidase activity in 158 normal fresh blood samples was 130 +/- SD 29.8 mU/gHb. There was no significant difference between males and females. The enzyme level in a patient with non-spherocytic haemolytic anaemia was 6 mU/gHb. Of 31 relatives of the enzyme deficient patient examined five were clearly heterozygous for the enzyme defect. Their enzyme levels were below 50 mU/gHb. The father, who is an obligatory heterozygote, had an enzyme level of 87 mU/gHb which falls within the low values of the normal range. The distribution of enzyme activity in 26 family members having enzyme activities greater than 50 mU/gHb suggests that six of these may be carriers of the defective gene. We were unable to identify carriers by enzyme kinetic studies, electrophoresis, chromatographic examination of acid extractable nucleotides or measurement of enzyme levels in young and old erythrocyte populations. The last-mentioned technique showed that erythrocyte 5'-nucleotidase activity in reticulocytes may be as high as 1785 mU/gHb and declines rapidly as the cell ages reaching about 50 mU/gHb in the oldest cells. Blood samples which had been stored frozen were examined to see whether such samples were satisfactory for population studies. The mean enzyme activity 151 blood samples stored frozen for more than 12 months was 153+/-SD 44.7 mU/gHb. The increase in enzyme levels in the frozen samples appears to be greatest in samples showing haemolysis. In spite of the increased enzyme level frozen samples could be used to detect subjects with enzyme deficiency and some heterozygotes.
D015720:5'-Nucleotidase; D001793:Blood Preservation; D001797:Blood Protein Electrophoresis; D004905:Erythrocyte Aging; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005615:Freezing; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007700:Kinetics; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D010375:Pedigree; D011742:Pyrimidine Nucleotides / Q000172:deficiency
D011742:Pyrimidine Nucleotides; D009708:Nucleotidases; D015720:5'-Nucleotidase