Human Genetics

, Volume 78, Issue 3, pp 240–243 | Cite as

Heat resistance, immunological and quantitative changes of neutrophil alkaline phosphatase in trisomy 21 pregnancies

  • J. Grozdea
  • H. Vergnes
  • A. Brisson-Lougarre
  • G. Bourrouillou
  • J. Martin
  • C. Blum
  • P. Colombies
Original Investigations
Received:
Revised:

Summary

Neutrophil alkaline phosphatase (NAP) was analysed in 25 pregnant women with trisomy 21 foetuses whose chromosomal aberration was recognized by cytogenetic study after amniocentesis. Enzyme investigation was performed at 20–22 weeks of gestation using cytochemical and biochemical techniques. Twenty-nine women at the same stage of normal pregnancies were selected as controls. In parallel, each mother was karyotyped. Ten subjects from each series underwent biochemical and immunological investigation: measurement of enzyme levels, thermostability study and immunological tests with alkaline phosphatase isoenzyme antibodies. NAP from pregnant women with trisomy 21 foetuses was characterized by: (1) a lower rate of enzyme activity, (2) a large amount of heat-stable enzyme (T=56°C for biochemical assays, T=85°C for cytochemical tests), and (3) a marked loss of liver antigenicity. These findings suggest the presence in trisomy 21 pregnancies of a non-specific alkaline phosphatase isoenzyme which appears as an “enzyme marker” in maternal circulating neutrophils.

Keywords

Pregnant Woman Alkaline Phosphatase Chromosomal Aberration Heat Resistance Biochemical Assay 
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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • J. Grozdea
    • 1
  • H. Vergnes
    • 1
  • A. Brisson-Lougarre
    • 1
  • G. Bourrouillou
    • 2
  • J. Martin
    • 2
  • C. Blum
    • 3
  • P. Colombies
    • 2
  1. 1.Laboratoire d'Enzymologie, Service Universitaire d'Hématologie, INSERM, CNRSCHU de RangueilToulouse CedexFrance
  2. 2.Laboratoire Central d'Hématologie et de GénétiqueCHU de PurpanToulouse CedexFrance
  3. 3.Laboratoire d'Endocrinologie Expérimentale, CHU de RangueilUnité U. 168 INSERMToulouse CedexFrance

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