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Institute of
Molecular Medicine, John Radcliffe Hospital, Headington, Oxford
OX3 9DS, UK
Correspondence to: Dr Flint, jf{at}mol.biol.ox.ac.uk
Chromosomal rearrangements involving the ends of chromosomes
(telomeres) are emerging as an important cause of human genetic diseases. This review describes the development of first and second generation sets of telomere specific clones, together with advances in
fluorescence in situ hybridisation (FISH) technology, which have made
the prospect of screening for telomeric rearrangements a realistic
goal. Initial FISH studies using the telomere specific clones indicate
that they will be a valuable diagnostic tool for the investigation of
mental retardation, the characterisation of known abnormalities
detected by conventional cytogenetic analysis, spontaneous recurrent
miscarriages, infertility, haematological malignancies, and
preimplantation diagnosis, as well as other fields of clinical
interest. In addition, they may help investigate telomere structure
and function and can be used in the identification of dosage sensitive
genes involved in human genetic disease.
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