caa a22 4500 467985189 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206762 doi (NATIONALLICENCE)springer-10.1007/BF00206762 Immunochemical quantification of Cu/Zn superoxide dismutase in prenatal diagnosis of Down's syndrome [Elektronische Daten] [Tomas Porstmann, Roselotte Wietschke, Günther Cobet, Katja Lorenz, Roland Grunow, Sigbert Jahn, Rainer Bollmann, Gudrun Stamminger, Rüdiger von Baehr] Summary: Cu/Zn Superoxide dismutase (SOD) was quantified by enzyme immunoassay for prenatal diagnosis of Down's syndrome. Overall, 154 samples of amniotic fluid, 72 samples of amniotic cells and 31 samples of chorionic tissue were investigated. Due to the large biological variance of the SOD concentrations in normal pregnancies (range for amniotic fluid 10.5-154.9, for amniotic cells 40.0-338.8, and for chorionic tissue 132.2-649.5 g SOD/g protein) the cases of Down's syndrome detected by karyotype analysis were not reliably identified by Cu/Zn SOD quantification. As in erythrocytes obtained from patients with Down's syndrome, a trisomy 21 was easily and accurately detected in the erythrocytes from very small quantities (about 50 μl) of umbilical blood. The SOD concentrations in normal cases (n = 40) varied between 11.4 and 17.3 and in the cases of trisomy 21, as confirmed by karyotyping (n = 4), between 22.5 and 23.2ng/one million cells. SOD quantification in fetal erythrocyte is a helpful additional method in prenatal Down syndrome diagnosis under certain conditions, which are discussed. Springer-Verlag, 1990 Porstmann Tomas Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Wietschke Roselotte Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Cobet Günther Institut für Medizinische Genetik, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Lorenz Katja Institut für Medizinische Genetik, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Grunow Roland Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Jahn Sigbert Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Bollmann Rainer Frauenklinik, Bereich Medizin (Charité), Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Stamminger Gudrun Institut für Pathologische und Klinische Biochemie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut von Baehr Rüdiger Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut Human Genetics Springer-Verlag 85/3(1990-08-01), 362-366 0340-6717 85:3<362 1990 85 439 https://doi.org/10.1007/BF00206762 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206762 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Porstmann Tomas Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Wietschke Roselotte Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Cobet Günther Institut für Medizinische Genetik, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Lorenz Katja Institut für Medizinische Genetik, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Grunow Roland Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Jahn Sigbert Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Bollmann Rainer Frauenklinik, Bereich Medizin (Charité), Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- Stamminger Gudrun Institut für Pathologische und Klinische Biochemie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 700 1- von Baehr Rüdiger Institut für Medizinische Immunologie, Humboldt-Universität zu Berlin, Schumannstrasse 20/21, DDR-1040, Berlin, German Democratic Republic aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 362-366 0340-6717 85:3<362 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer