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A new strategy for the detection of subtelomeric rearrangements

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Abstract.

We present a new strategy for the detection of subtelomeric rearrangements. This approach is based on two hybridizations with different probe sets. The first set consists of microdissected subtelomeric probes (each 5–10 megabases in size) labeled combinatorially employing 7 different fluorochromes. With this set, subtelomeric interchromosomal exchanges can be detected in a 24-color experiment. The second set comprises a second generation of subtelomeric PAC-, P1- and BAC-clones. Probes for p- and q-arms are labeled with two different colors. This second set detects small deletions; in addition it provides regional information, so that translocated material identified by the first probe set can be assigned to the p- or q-arm of a chromosome. The test has been evaluated in a blind study on a series of subtle translocations and deletions.

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Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik, LMU München, Germany, Germany

    Christine Fauth, Stephanie Harabacz, Gaby Lederer & Michael R. Speicher

  2. Cancer Genetics Branch, National Human Genetics Research Institute, NIH, Bethesda, Maryland, USA, USA

    Hongen Zhang

  3. MRC Molecular Haematology Unit, Institute of Molecular Medicine, Oxford, UK, UK

    Jill Brown & Lyndal Kearney

  4. Intelligent Bioinformatics Systems, German Cancer Research Center, Heidelberg, Germany, Germany

    Kaan Saracoglu & Roland Eils

  5. Klinische Genetik, St.-Johanns-Spital, Salzburg, Austria, Austria

    Olaf Rittinger

  6. Abteilung für medizinische Genetik der Kinderklinik, LMU München, Germany, Germany

    Imma Rost

Authors
  1. Christine Fauth
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  2. Hongen Zhang
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  3. Stephanie Harabacz
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  4. Jill Brown
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  5. Kaan Saracoglu
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  6. Gaby Lederer
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  7. Olaf Rittinger
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  8. Imma Rost
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  9. Roland Eils
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  10. Lyndal Kearney
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  11. Michael R. Speicher
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Corresponding author

Correspondence to Christine Fauth.

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Fauth, C., Zhang, H., Harabacz, S. et al. A new strategy for the detection of subtelomeric rearrangements. Hum Genet 109, 576–583 (2001). https://doi.org/10.1007/s00439-001-0629-7

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  • DOI: https://doi.org/10.1007/s00439-001-0629-7

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