Effect of aneuploidy and neoplasia on human ribosomal DNA inheritance

A DNA length polymorphism in the nontranscribed spacer region of the repeating unit that codes for human ribosomal RNA produces a characteristic pattern of restriction fragments in each individual. Quantitative densitometric analysis of ribosomal DNA fragment distribution in families demonstrates additive inheritance in those with chromosomally normal or aneuploid offspring. Differences between offspring and parental ribosomal DNA patterns could be explained by a heterogeneous distribution of length variants on the acrocentric chromosomes. New ribosomal DNA length variants of 9.0, 6.7, 5.5, and 5.2 kilobases were observed in normal individuals after BamHI restriction, and the former two were present in multiple copies. A panel of solid tumor specimens exhibited ribosomal DNA patterns that were generally characteristic of the patient rather than tumor type. However, novel ribosomal DNA length variants or changes in length variant proportions were noted in three of the four tumors for which adjacent normal tissue was available for comparison; these alterations occurred in a Burkitt lymphoma, a teratoma, and a Wilms tumor. A consistent karyotype of 50,XY in the Wilms tumor specimen supports previous evidence for increased repetitive DNA variation in aneuploid, neoplastic tissues.