Summary
The amount of ribosomal DNA (rDNA) was determined quantitatively by RNA-DNA hybridization in the genomes of a mother and her daughter, both with the karyotype 45,XX,t(15q21q). The saturation values found were 0.030% (mother), 0.023%(daughter), and 0.022% for the husband and father of the daughter. A detailed cytogenetic analysis of the short arms of the acrocentric chromosomes of these probands allowed the biochemical results to be interpreted in terms of the size of the individual set of nucleolus organizing regions (NORs) present in each proband. The correlation existing between the biochemical and the cytogenetic findings shows that the amount of rDNA in the human genome is not primarily a function of the number of acrocentric chromosomes, but depends on the individual combination of the variant NORs occurring in the human genome.
Zusammenfassung
Mit Hilfe der RNA-DNA-Hybridisierungsmethode wurden bei Mutter und Tochter mit dem Karyotyp 45,XX,t(15q21q) Anteile der ribosomalen DNA (rDNA) am Genom von 0,030% und 0,023% ermittelt. Der Ehemann und Vater der Tochter (46,XY) wies einen rDNA-Anteil von 0,022% auf. Die cytogenetische Detailanalyse der kurzen Arme der akrozentrischen Chromosomen bei diesen Probanden erlaubt die Deutung der Ergebnisse auf Grund der Größe der jeweils vorhandenen Nucleolusorganisatorregionen (NOR). Die Korrelation zwischen den biochemischen und den cytogenetischen Befunden zeigt, daß der Anteil der rDNA am Genom nicht in erster Linie eine Funktion der Anzahl akrozentrischer Chromosomen ist, sondern von der individuellen Kombination der im Bereich der NORs des Menschen existierenden Varianten abhängt.
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Dittes, H., Krone, W., Bross, K. et al. Biochemical and cytogenetic studies on the nucleolus organizing regions (NOR) of man. Hum Genet 26, 47–59 (1975). https://doi.org/10.1007/BF00280284
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DOI: https://doi.org/10.1007/BF00280284