caa a22 4500 467983569 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900201xx s 000 0 eng 10.1007/BF00200564 doi (NATIONALLICENCE)springer-10.1007/BF00200564 Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences [Elektronische Daten] [M. Hentemann, J. Reiss, M. Wagner, D. Cooper] Summary: Using the polymerase chain reaction (PCR) technique, we have screened the DNA of 42 patients with Duchenne or Becker muscular dystrophy for deletions within the DMD gene. Two regions within putative deletion "hot spots” of this gene were tested, and deletions were found in 16.6% of patients. The oligonucleotide primers employed in this study initiate the amplification of exon sequences and were used to test the suitability and reliability of PCR in deletion screening and prenatal diagnosis using various numbers of cycles and artificial contamination ratios. We compared our approach with both "multiplex DNA amplification” and Southern blot analysis. A comparative evaluation of currently available techniques is presented. Springer-Verlag, 1990 Hentemann M. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Reiss J. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Wagner M. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Cooper D. Molecular Genetics Section, Thrombosis Research Unit, University of London, King's College Hospital School of Medicine, Denmark Hill, SE58RX, London, UK aut Human Genetics Springer-Verlag 84/3(1990-02-01), 228-232 0340-6717 84:3<228 1990 84 439 https://doi.org/10.1007/BF00200564 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00200564 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hentemann M. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Reiss J. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Wagner M. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Cooper D. Molecular Genetics Section, Thrombosis Research Unit, University of London, King's College Hospital School of Medicine, Denmark Hill, SE58RX, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/3(1990-02-01), 228-232 0340-6717 84:3<228 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer