caa a22 4500 397573464 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199611 xx s 000 0 eng 10.1093/hmg/5.11.1793 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.11.1793 Oligonucleotide Probes for Alpha Satellite DNA Variants Can Distinguish Homologous Chromosomes by FISH [Elektronische Daten] [Christine L. O'Keefe, Peter E. Warburton, A. Gregory Matera] Chromosomal heteromorphisms have been used extensively to mark individual chromosomes. However, classical banding techniques used to identify these structural variants are imprecise and difficult to quantify. Different chromosomes 17 from the human population are characterized by distinct haplotypes of alpha satellite DNA. We have used these sequence variants to construct oligonucleotide probes for fluorescence in situ hybridization (FISH). These oligomers are the first reported FISH probes that can discriminate between cytogenetically indistinguishable chromosome homologues. They have been used to follow the transmission of a single chromosome 17 through a pedigree-similar to a typical polymorphic marker. Furthermore-extended chromatin fiber techniques reveal the presence of discrete domains of different sequence variants within individual centromeres. Extension of this strategy to create a battery of other variant-specific oligoprobes should provide a powerful diagnostic tool for parent of origin effects in the study of aneuploidy, imprinting and cancer cytogenetics. © 1996 Oxford University Press O'Keefe Christine L. Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA aut Warburton Peter E. Institute of Cell and Molecular Biology, Michael Swann Building, Kings Buildings, University of Edinburgh, Mayfield Road, Edinburgh EH9 3JR, UK aut Matera A. Gregory Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA aut Human Molecular Genetics Oxford University Press 5/11(1996-11), 1793-1799 0964-6906 5:11<1793 1996 5 hmg https://doi.org/10.1093/hmg/5.11.1793 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.11.1793 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- O'Keefe Christine L. Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA aut NATIONALLICENCE 700 1- Warburton Peter E. Institute of Cell and Molecular Biology, Michael Swann Building, Kings Buildings, University of Edinburgh, Mayfield Road, Edinburgh EH9 3JR, UK aut NATIONALLICENCE 700 1- Matera A. Gregory Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/11(1996-11), 1793-1799 0964-6906 5:11<1793 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford