Summary
It has recently been possible to identify specific gene sites with in situ hybridization of H3-RNA to human metaphase chromosomes. This study extends earlier observations of the localization of ribosomal DNA (rDNA) and describes the morphology of a small metacentric chromosome fragment which contains ribosomal DNA sites on both sides of the centromere. The presence of such additional gene sites is correlated with the clinical effects noted in the patient.
Zusammenfassung
Kürzlich wurde es möglich, spezifische Genloci durch in situ-Hybridisierung von H3-RNA mit menschlichen Metaphase-Chromosomen zu identifizieren. In dieser Untersuchung wurden frühere Beobachtungen über die Lokalisation ribosomaler DNA (rDNA) ergänzt; außerdem wird ein kleines metazentrisches Chromosomenfragment beschrieben, das beiderseits des Zentromers rDNA-Gene enthält. Die Anwesenheit derartiger zusätzlicher Gene wird bei dem Patienten mit den klinischen Auswirkungen in Beziehung gesetzt.
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Supported by the Atomic Energy Commission Contract No. AT(11-1) and the National Institute of Child Health and Human Development N.I.H.Training Grant No. 5 TO1HD00349.
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Johnson, L.D., Harris, R.C. & Henderson, A.S. Ribosomal DNA sites in a metacentric chromosome fragment. Hum Genet 21, 217–219 (1974). https://doi.org/10.1007/BF00279015
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DOI: https://doi.org/10.1007/BF00279015