Mapping Immunoglobulin Gene-Related DNA Probes to the Central Region of Normal and Pericentrically Inverted Human Chromosome 2

Several immunoglobulin κ-related sequences were transposed in evolution from the short arm to the long arm of chromosome 2. The common pericentric inversion of this chromosome found in present-day populations results in an apparent reinversion of those sequences to the short arm and the transposition of the κ and CD8α loci to the long arm. This is shown by in situ hybridization and PFGE experiments with hybridization probes from both arms of chromosome 2,i.e., from 2cen-p12 and 2cen-q13. The inversion breakpoints lie outside of all hybridization sites, and the inversion is described as inv(2)(p12q14). The possibility of common breakpoints in ancient and present-day pericentric inversions is discussed.