Abstract
We describe a human genomic cosmid clone, 56.1.1, that contains subtelomeric sequences present on multiple human chromosomes. In particular, using fluorescence in situ hybridization, we have identified 16 sites of hybridization on 12 chromosomes. In a sample of 8 unrelated individuals, 10 of these sites showed interindividual variation. Co-hybridization with other polymorphic probes allowed us to demonstrate cytologically heterozygosity at three sites in six individuals. The chromosomal distribution of hybridization sites in a family strongly suggests that these variants are inherited in a Mendelian fashion. These data show that subtelomeric repeats are a rich source of genetic variability. Possible mechanisms of generation of such variants are discussed.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1019-1025 |
| Number of pages | 7 |
| Journal | Genomics |
| Volume | 14 |
| Issue number | 4 |
| DOIs | |
| State | Published - Dec 1992 |
| Externally published | Yes |
Bibliographical note
Funding Information:We thank T. Rand and D. C. Ward (Yale University School of Medicine) for providing the computer programs Gene Join, CCD Image Capture, and Segmented Ruler used in this work, and D. A. Miller {Wayne State University) for providing probe L6. This research has been supported in part by Howard Hughes Medical Institute, the Italian National Research Council (CNR), and the Agensud (Formez/ Corisa), Italy.