Fluorescence in situ hybridization reveals a break in the alpha-satellite DNA of chromosome 1 in a family with a balanced whole-arm translocation.
We have characterized a whole-arm translocation involving chromosomes 1 and 19 by traditional cytogenetic methods and fluorescence in situ hybridization with chromosome-specific alpha-satellite and whole-chromosome painting probes, and different satellite III DNA probes. We have identified a break in the alpha-satellite DNA region of chromosome 1, with division of this material into two alpha-satellite DNA blocks. This leaves one translocation chromosome with truncated alpha-satellite DNA from chromosome 1 and the other translocation chromosome with all the alpha-satellite DNA from chromosome 19 and truncated alpha-satellite DNA from chromosome 1. We speculate whether the recombination event observed has taken place in tetraplex structures of satellite III DNA interspersed between alpha-satellite DNA.
Gravholt
C H
CH
Department of Biological Psychiatry, Psychiatric Hospital in Aarhus, Risskov, Denmark.
Caprani
M
M
Friedrich
U
U
D002503:Centromere; D002878:Chromosomes, Human, Pair 1; D002888:Chromosomes, Human, Pair 19; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D004276:DNA, Satellite