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Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

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Abstract

Junction fragments from the constitutional t(11;22)(q23;q11) translocation have previously been cloned and sequenced. Here we report a high incidence of translocation-specific PCR products in sperm DNA from normal individuals. Somatic DNA from these and other normal individuals or from people with chromosomal breakage syndromes do not yield PCR junction fragments, indicating that this translocation originates during meiosis.

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Figure 1: Diagram of t(11;22) and sperm PCR analysis.

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Acknowledgements

We would like to thank H. Kono, L. Mitchell, R. Wilson and C. Felix for helpful discussions. These studies were supported in part by CA39926 (BSE), HD26979 from the NIH, and funds from the Charles E.H. Upham chair (BSE).

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Author notes

  1. Hiroki Kurahashi

    Present address: Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Medical School, Suita, Osaka, Japan

Authors and Affiliations

  1. Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Abramson Research Center Building, 3516 Civic Center Boulevard, Philadelphia, Pennsylvania

    Hiroki Kurahashi & Beverly S. Emanuel

  2. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    Beverly S. Emanuel

Authors
  1. Hiroki Kurahashi
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  2. Beverly S. Emanuel
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Correspondence to Beverly S. Emanuel.

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Kurahashi, H., Emanuel, B. Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nat Genet 29, 139–140 (2001). https://doi.org/10.1038/ng1001-139

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  • DOI: https://doi.org/10.1038/ng1001-139

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