A complete set of human telomeric probes and their clinical application (original) (raw)

References

  1. Moyzis, R.K. et al. A highly conserved repetitive DNA sequence (TTAGGG)n present at the telomeres of human chromosomes. Proc. Natl. Acad. Sci. USA 85, 6622–6626 (1988).
    Article CAS Google Scholar
  2. Brown, W.R.A. et al. Structure and polymorphism of human telomere-associated DNA. Cell 63, 119–132 (1990).
    Article CAS Google Scholar
  3. Cross, S., Lindsey, J., Fantes, J., McKay, S., McGill, N. & Cooke, H. The structure of a subterminal repeated sequence present on many human chromosomes. Nucl. Acids Res. 18, 6649–6657 (1990).
    Article CAS Google Scholar
  4. Saccone, S., De Sario, A., Della-Valle, G. & Bernardi, G. The highest gene concentrations in the human genome are in teiomeric bands of metaphase chromosomes. Proc. Natl. Acad. Sci. USA 89, 4913–4917 (1992).
    Article CAS Google Scholar
  5. Lamb, J. et al. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet 2, 819–824 (1989).
    Article CAS Google Scholar
  6. Overhauser, J. et al. Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am. J. Hum. Genet. 45, 296–303 (1989).
    CAS PubMed PubMed Central Google Scholar
  7. Altherr, M.R. et al. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am. J. Hum. Genet. 49, 1235–1242 (1991).
    CAS PubMed PubMed Central Google Scholar
  8. Kuwano, A., Ledbetter, S.A., Dobyns, W.B., Emanuel, B.S. & Ledbetter, D.H. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. Hum. Genet. 49, 707–714 (1991).
    CAS PubMed PubMed Central Google Scholar
  9. Flint, J. et al. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genet. 9, 132–140 (1995).
    Article CAS Google Scholar
  10. Biesecker, L.G. et al. Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am. J. Med. Genet. 58, 389–394 (1995).
    Article CAS Google Scholar
  11. Riethman, H.C., Moyzis, R.K., Meyne, J., Burke, D.T. and Olson, M.V. Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector. Proc. Natl. Acad. Sci. USA 86, 6240–6244 (1989).
    Article CAS Google Scholar
  12. Bates, G.P. et al. A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am. J. Hum. Genet. 46, 762–775 (1990).
    CAS PubMed PubMed Central Google Scholar
  13. Martin-Gailardo, A. et al. Molecular analysis of a novel subtelomeric repeat with polymorphic chromosomal distribution. Cytogenet. Cell Genet. 71, 289–295 (1995).
    Article Google Scholar
  14. Sternberg, N.L. Cloning high molecular weight DNA fragments by the bacteriophage P1 system. Trends Genet. 8, 11–16 (1992).
    Article CAS Google Scholar
  15. loannou, P.A. et al. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6, 84–89 (1994).
    Article Google Scholar
  16. Ning, Y., Rosenberg, M., Biesecker, L.G. & Ledbetter, D.H. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Hum. Genet. 97, 765–769 (1996).
    Article CAS Google Scholar
  17. Ferrin, L.J. & Camerini-Otero, R.D. Selective cleavage of human DNA: RecA-assisted restriction endonuclease (RARE) cleavage. Science 254, 1494–1497 (1991).
    Article CAS Google Scholar
  18. Ferrin, L.J. & Camerini-Otero, R.D. Long-range mapping of gaps and telomeres with RecA-assisted restriction endonuclease (RARE) cleavage. Nature Genet. 6, 379–383 (1994).
    Article CAS Google Scholar
  19. Collins, C., Kuo, W.L., Segraves, R., Fuscoe, J., Pinkel, D. & Gray, J.W. Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics 11, 997–1006 (1991).
    Article CAS Google Scholar
  20. Speicher, M.R., Ballard, S.G. & Ward, D.C. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genet. 12, 368–375 (1996).
    Article CAS Google Scholar
  21. Schrock, E. et al. Multicolor spectral karyotyping of human chromosomes. Science 273, 494–497 (1996).
    Article CAS Google Scholar
  22. Riethman, H.C., Spais, C., Buckingham, J., Grady, D. & Moyzis, R.K. Physical analysis of the terminal 240 kb of DNA from human chromosome 1q. Genomics 17, 25–32 (1993).
    Article CAS Google Scholar
  23. Negorev, D.G., Macina, R.A., Spais, C., Ruthig, L.A., Hu, X.-L. & Riethman, H.C. Physical analysis of the terminal 270 kb of DNA from human chromosome 1q. Genomics 22, 569–578 (1994).
    Article CAS Google Scholar
  24. Macina, R.A., Negorev, D.G., Spais, C., Ruthig, L.A., Hu, X.-L. and Riethman, H.C. Sequence organization of the human chromosome 2q telomere. Hum. Mol. Genet. 3, 1847–1853 (1994).
    Article CAS Google Scholar
  25. Macina, R.A. & Riethman, H.C. Mapping vector-adjacent DNA from a 7q human telomeric YAC using RARE. Mamm. Genome 5, 596 (1994).
    Article CAS Google Scholar
  26. Browne, D.L., Smith, E.A., Dietz-Band, J., Riethman, H.C., Phromchotikul, T. & Litt, M. Dinucleotide repeat polymophism at the human chromosome 11p telomere (D11S2071). Genomics 25, 600–601 (1995).
    Article CAS Google Scholar
  27. Macina, R.A. et al. Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres. Genome Res. 5, 225–232 (1995).
    Article CAS Google Scholar
  28. Reston, J.T., Hu, X.-L., Macina, R.A., Spais, C. & Riethman, H.C. Structure of the terminal 300 kb of DNA from human chromosome 21q. Genomics 26, 31–38 (1995).
    Article CAS Google Scholar
  29. Youngman, S. et al. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21 p and 22p. Genomics 14, 350–356 (1992).
    Article CAS Google Scholar
  30. Wright, T.J. et al. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum. Mol. Genet. 2, 1673–1678 (1993).
    Article CAS Google Scholar
  31. Cooke, H.J., Brown, W.R. & Rappold, G.A. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317, 687–692 (1985).
    Article CAS Google Scholar
  32. Kvaloy, K., Galvagni, F. & Brown, W.R. The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum. Mol. Genet. 3, 771–778 (1994).
    Article CAS Google Scholar
  33. Lehrach, H. et al. Hybridization fingerprinting in genome mapping and sequencing. in Genome Analysis Vol. 1: Genetic and Physical Mapping. (eds Davies, K.E. & Tilghman, S.M.) 39–81 (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 1990).
    Google Scholar

Download references