European Journal of Pediatrics

, Volume 147, Issue 4, pp 368–371 | Cite as

DNA analysis of ornithine transcarbamylase deficiency

  • U. Wendel
  • E. Wilichowski
  • J. Schmidtke
  • C. Bachmann
Original Investigations


By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers. In one case a doubtful result obtained in a biochemical carrier detection test (by examining the renal orotic acid excretion after a protein load) could be clarified by DNA analysis. In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis. Previous results of the biochemical carrier test should be controlled by DNA analysis, especially when “normal” results were obtained.

Key words

Ornithintranscarbamylase deficiency Carrier detection DNA analysis Segregation analysis 





restriction fragment length polymorphism


desoxyribonucleic acid


complementary DNA


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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • U. Wendel
    • 1
  • E. Wilichowski
    • 2
  • J. Schmidtke
    • 2
  • C. Bachmann
    • 3
  1. 1.Universitäts-KinderklinikDüsseldorfGermany
  2. 2.Institut für Humangenetik der UniversitätGöttingenGermany
  3. 3.Chemisches Zentrallabor, InselspitalBernSwitzerland

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