An enzymatic marker in mothers of trisomy 21 children: neutrophil alkaline phosphatase.
Neutrophil alkaline phosphatase (NAP) from 12 mothers of normal children was investigated and the results compared to those of 7 mothers with trisomy 21 offsprings, in an attempt to determine a parental molecular change in this chromosomal abnormality. The biochemical properties of the enzyme were analyzed by the procedures of isoenzyme characterization, i.e. enzyme assays, thermostability, inhibition patterns and slab gel electrophoresis. Immunological properties were determined on 5 samples from normal mothers and on the same sample number of mothers with affected children. In these latter NAP showed characteristics that were to some extent different from the ones of normal controls. The following changes were observed: highly significant loading of membrane and nucleus pellets in NAP activity, poor effect of inhibitors on thermostable component and immunodepletion measured by a significant decrease of the normal affinity for antiliver and antiplacental alkaline phosphatase antisera. These findings are discussed in the light of our knowledge of alkaline phosphatase isoenzymes.
Vergnes
H
H
Laboratoire d'Enzymologie, INSERM, CNRS, CHU de Rangueil, Toulouse, France.
Grozdea
J
J
Brisson-Lougarre
A
A
Bourrouillou
G
G
Blum
C
C
Martin
J
J
Colombies
P
P
D000328:Adult; D000469:Alkaline Phosphatase / Q000037:antagonists & inhibitors / Q000378:metabolism*; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D004355:Drug Stability; D004492:Edetic Acid / Q000494:pharmacology; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006709:Homoarginine / Q000494:pharmacology; D006358:Hot Temperature; D006801:Humans; D007527:Isoenzymes / Q000378:metabolism*; D009504:Neutrophils / Q000201:enzymology*; D010649:Phenylalanine / Q000494:pharmacology
D007527:Isoenzymes; D006709:Homoarginine; D010649:Phenylalanine; D004492:Edetic Acid; D000469:Alkaline Phosphatase