Home LiteratureArticle Details
PMID: 10851249 Published · ppublish English Journal Article Review

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

Journal of medical genetics ·Vol. 37 ·No. 6 ·2000-06-00 ·Pages 401-9

Knight SJ, Flint J

Abstract

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.

MeSH Terms
Chromosome Aberrations/diagnosis,genetics Chromosome Disorders Cloning, Molecular DNA Probes/genetics Genetic Testing/methods Hematologic Neoplasms/diagnosis,genetics Humans In Situ Hybridization, Fluorescence/methods Intellectual Disability/diagnosis,genetics Preimplantation Diagnosis/methods Telomere/genetics,metabolism
Chemicals
DNA Probes
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Knight S J
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
Flint J
References (51)
51 references, click to expand
  1. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.
    Am J Med Genet. 1992 Jul 15;43(5):872-6 PMID: 1353666
  2. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.
    Genomics. 1992 Oct;14(2):350-6 PMID: 1427851
  3. De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
    Am J Hum Genet. 1993 Apr;52(4):668-76 PMID: 8460633
  4. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.
    Am J Hum Genet. 1993 Sep;53(3):688-701 PMID: 8352277
  5. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
    Am J Hum Genet. 1994 Mar;54(3):464-72 PMID: 7906921
  6. A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genome.
    Nat Genet. 1994 Jan;6(1):52-6 PMID: 8136835
  7. Healing of broken human chromosomes by the addition of telomeric repeats.
    Am J Hum Genet. 1994 Sep;55(3):505-12 PMID: 7521575
  8. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
    Nat Genet. 1995 Feb;9(2):132-40 PMID: 7719339
  9. Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature.
    Am J Med Genet. 1995 Jul 3;57(3):420-4 PMID: 7677144
  10. The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter.
    Genomics. 1995 Sep 20;29(2):371-82 PMID: 8666384
  11. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.
    Hum Genet. 1996 Jun;97(6):765-9 PMID: 8641694
  12. Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.
    Hum Mol Genet. 1996 Aug;5(8):1163-9 PMID: 8842736
  13. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.
    Am J Hum Genet. 1997 Jan;60(1):113-20 PMID: 8981954
  14. The relationship between chromosome structure and function at a human telomeric region.
    Nat Genet. 1997 Mar;15(3):252-7 PMID: 9054936
  15. Automated selection of short tandem repeat polymorphism markers for whole genome screening for segmental aneusomy.
    Hum Hered. 1997 Mar-Apr;47(2):76-85 PMID: 9097089
  16. Molecular-cytogenetic detection of a deletion of 1p36.3.
    J Med Genet. 1997 Apr;34(4):314-7 PMID: 9138156
  17. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres.
    Eur J Hum Genet. 1997 Jan-Feb;5(1):1-8 PMID: 9156314
  18. Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains.
    Hum Mol Genet. 1997 Aug;6(8):1305-13 PMID: 9259277
  19. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
    J Med Genet. 1997 Aug;34(8):640-4 PMID: 9279755
  20. Characterization of short tandem repeats from thirty-one human telomeres.
    Genome Res. 1997 Sep;7(9):917-23 PMID: 9314497
  21. Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
    Am J Hum Genet. 1998 Jun;62(6):1500-6 PMID: 9585582
  22. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.
    J Med Genet. 1998 Sep;35(9):722-6 PMID: 9733029
  23. A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
    Am J Hum Genet. 1990 Apr;46(4):762-75 PMID: 2138410
  24. Two 22q telomere deletions serendipitously detected by FISH.
    J Med Genet. 1998 Nov;35(11):939-42 PMID: 9832042
  25. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
    Hum Mol Genet. 1999 Feb;8(2):313-21 PMID: 9931339
  26. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.
    Am J Med Genet. 1999 Jan 29;82(3):249-53 PMID: 10215549
  27. Delineation of multiple deleted regions in 7q in myeloid disorders.
    Genes Chromosomes Cancer. 1999 Aug;25(4):384-92 PMID: 10398433
  28. Monosomy 1p36.
    J Med Genet. 1999 Sep;36(9):657-63 PMID: 10507720
  29. Characterization of physical gap sizes at human telomeres.
    Genome Res. 1999 Sep;9(9):888-94 PMID: 10508848
  30. Subtle chromosomal rearrangements in children with unexplained mental retardation.
    Lancet. 1999 Nov 13;354(9191):1676-81 PMID: 10568569
  31. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
    Am J Hum Genet. 2000 Jan;66(1):16-25 PMID: 10631133
  32. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
    J Med Genet. 1985 Aug;22(4):283-7 PMID: 4045954
  33. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
    Am J Med Genet. 1988 Apr;29(4):909-15 PMID: 3400736
  34. A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes.
    Proc Natl Acad Sci U S A. 1988 Sep;85(18):6622-6 PMID: 3413114
  35. Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5.
    Am J Hum Genet. 1989 Aug;45(2):296-303 PMID: 2667351
  36. Cloning of human telomeres by complementation in yeast.
    Nature. 1989 Apr 27;338(6218):771-4 PMID: 2541341
  37. Molecular cloning of human telomeres in yeast.
    Nature. 1989 Apr 27;338(6218):774-6 PMID: 2541342
  38. Human telomeres contain at least three types of G-rich repeat distributed non-randomly.
    Nucleic Acids Res. 1989 Jun 26;17(12):4611-27 PMID: 2664709
  39. Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector.
    Proc Natl Acad Sci U S A. 1989 Aug;86(16):6240-4 PMID: 2668959
  40. An interspersed repeated sequence specific for human subtelomeric regions.
    EMBO J. 1990 Feb;9(2):505-14 PMID: 2303040
  41. A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience.
    J Ment Defic Res. 1990 Feb;34 ( Pt 1):29-40 PMID: 2325119
  42. Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n.
    Nucleic Acids Res. 1990 Jun 11;18(11):3353-61 PMID: 2356126
  43. A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n.
    Nature. 1990 Aug 30;346(6287):868-71 PMID: 1975428
  44. Structure and polymorphism of human telomere-associated DNA.
    Cell. 1990 Oct 5;63(1):119-32 PMID: 2208276
  45. Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
    J Med Genet. 1990 Sep;27(9):588-9 PMID: 2231653
  46. The structure of a subterminal repeated sequence present on many human chromosomes.
    Nucleic Acids Res. 1990 Nov 25;18(22):6649-57 PMID: 2251126
  47. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.
    Cell. 1991 Feb 8;64(3):595-606 PMID: 1991321
  48. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
    J Med Genet. 1992 Jun;29(6):432-3 PMID: 1352356
  49. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
    Am J Hum Genet. 1991 Oct;49(4):707-14 PMID: 1897521
  50. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
    Am J Hum Genet. 1991 Dec;49(6):1235-42 PMID: 1746553
  51. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes.
    Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):4913-7 PMID: 1594593
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
1468-6244
DOI
10.1136/jmg.37.6.401
Published
2000-06-00
Pages
401-9
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1734614
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.37.6.401 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2