Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

European Journal of Human Genetics

Volumn 5, Issue 1, 1997, Pages 1-8

  Knight, Samantha J L ^a   Horsley, Sharon W ^a   Regan, Regina ^a   Lawrie, N Martin ^b   Maher, E J ^c   Cardy, Donald L N ^b   Flint, Jonathan ^a   Kearney, Lyndal ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b CYTOCELL LTD   (United Kingdom)

^c The Churchill   (United Kingdom)

Author keywords

Fluorescence in situ hybridization; Genetics; Mental retardation; Submicroscopic chromosomal rearrangements; Telomeres

Indexed keywords

ARTICLE; CANCER; CHROMOSOME DELETION; CONGENITAL DISORDER; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; HUMAN; IDIOPATHIC DISEASE; MALE; MENTAL DEFICIENCY; MICROSCOPE; PRIORITY JOURNAL; TELOMERE;

EID: 0030960829     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484724     Document Type: Article

References (17)

1. Lichter P, Cremer T, Tang C-JC, Watkins PC, Manuelidis L, Ward DC: Rapid detection of human chromosome 21 aberrations by in situ hybridization. Proc Natl Acad Sci USA 1988; 85:9138-9142.
2. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J: Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 1988;85:9664-9668.
3. Collins C, Kuo WL, Segraves R, Fuscoe J, Pinkel D, Gray JW: Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics 1991;11:997-1006.
4. Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T: Multicolor spectral karyotyping of human chromosomes. Science 1996;273:494-497.
5. Speicher MR, Ballard SG, Ward DC: Karyotyping human chromosomes by combinatorial multifluor FISH. Nat Genet 1996;12:368-375.
6. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE: The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-139.
7. Giraudeau F, Aubert D, Young I, Horsley SW, Knight SJL, Kearney L, Vergnaud G, Flint J: Molecular-cytogenetic detection of a deletion of 1p36.3. J Med Genet 1997, in press.
8. National Institutes of Health and Institute of Molecular Medicine Collaboration: A complete set of human telomeric probes and their clinical application. Nat Genet 1996;14:86-89.
9. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor/NY, Cold Spring Harbor University Press, 1989.
10. Buckle VJ, Rack K: Fluorescent in situ hybridization; in Davies KE (ed): Human Genetic Diseases: A Practical Approach. Oxford, IRL Press, 1993, pp 59-80.
11. Larin Z, Fricker MD, Maher E, IshikawaBrush Y, Southern EM: Fluorescence in situ hybridisation of multiple probes on a single microscope slide. Nucleic Acids Res 1994;22: 3689-3692.
12. Maher EJ, Larin Z, Smith S, Cardy DLN, Southern EM: Fluorescence in situ hybridisation of twenty-four different chromosome-specific paints on a single microscope slide; in The Association of Clinical Cytogeneticists Programme and Abstract Booklet, April 1995.
13. Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF et al: The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.Genomics 1992;14:350-356.
14. Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE: Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet 1993;2:1673-1678.
15. Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegal-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE: Clinical, cytogenetic and molecular characterisation of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 1994;54: 464-472.
16. Cooke HJ, Brown WR, Rappold GA: Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 1985;317:687-692.
17. Kvaloy K, Galvagni F, Brown WR: The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum Mol Genet 1994;3:771-778.