An optimized set of human telomere clones for studying telomere integrity and architecture

Am J Hum Genet. 2000 Aug;67(2):320-32. doi: 10.1086/302998. Epub 2000 Jun 22.


Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34 genomic clones, which were a known distance from the end of the chromosome ( approximately 300 kb), and 7 clones corresponding to the most distal markers on the integrated genetic/physical map (1p, 5p, 6p, 9p, 12p, 15q, and 20q). Subsequently, this resource has been optimized and completed: the size of the genomic clones has been expanded to a target size of 100-200 kb, which is optimal for use in genome-scanning methodologies, and additional probes for the remaining seven telomeres have been identified. For each clone we give an associated mapped sequence-tagged site and provide distances from the telomere estimated using a combination of fiberFISH, interphase FISH, sequence analysis, and radiation-hybrid mapping. This updated set of telomeric clones is an invaluable resource for clinical diagnosis and represents an important contribution to genetic and physical mapping efforts aimed at telomeric regions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human / chemistry
  • Chromosomes, Human / genetics*
  • Cloning, Molecular
  • DNA Probes / genetics*
  • Genetic Markers / genetics
  • Humans
  • Hybrid Cells
  • In Situ Hybridization, Fluorescence
  • Interphase
  • Physical Chromosome Mapping
  • Polymorphism, Genetic / genetics
  • Sequence Analysis, DNA
  • Sequence Tagged Sites
  • Telomere / chemistry
  • Telomere / genetics*


  • DNA Probes
  • Genetic Markers