Cytogenetic and DNA analyses of equine abortion

Although no major structural or numerical abnormalities were found in the karyotypes of 12 aborted equine fetuses, two unrelated abortuses each carried a large polymorphism for the amount of heterochromatin in chromosome 1. In both karyotypes this chromosome was shown to be larger than its homolog. To determine the nature of the extra DNA in these chromosomes, equine DNA was isolated and characterized by buoyant density analysis. Equine mainband DNA had a buoyant density in neutral CsCl of 1.699 g/cm3, while the highly repetitive (dG+dC)-rich fraction had a buoyant density of 1.715 g/cm3. A radioactive RNA probe complementary to the purified satellite fraction was used for in situ hybridization to chromosomal spreads containing the enlarged chromosome 1. The results indicated that an increase in highly repetitive (dG+dC)-rich DNA was responsible for the increase in the size of the abnormal No. 1 chromosomes. While two of the 12 aborted fetuses exhibited marked heterochromatic dimorphisms, none of the karyotypes obtained from individuals with no family history of abortion exhibited such obvious polymorphisms.