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Use of repetitive DNA for diagnosis of chromosomal rearrangements

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Summary

We have used two repeated DNA fragments (3.4 and 2.1 kb) released from Y chromosome DNA by digestion with the restriction endonuclease Hae III to analyze potential Y chromosome/autosome translocations. Two female patients were studied who each had an abnormal chromosome 22 with extra quinacrine fluorescent material on the short arm. The origin of the 22p+ chromosomes was uncertain after standard cytologic examinations. Analysis of one patient's DNA with the Y-specific repeated DNA probes revealed the presence of both the 3.4 and 2.1 kb Y-specific fragments. Thus, in this patient, the additional material was from the Y chromosome. Analysis of the second patient's DNA for Y-specific repeated DNA was negative, indicating that the extra chromosomal segment was not from the long arm of the Y chromosome. These two cases demonstrate that repeated DNA can distinguish between similar appearing aberrant chromosomes and may be useful in karyotypic and prenatal diagnosis.

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Authors and Affiliations

  1. Laboratory for Human Biochemical Genetics, Division of Medical Genetics, Department of Medicine, Howard Hughes Medical Institute, USA

    K. E. Young & K. D. Smith

  2. Department of Pediatrics, The Johns Hopkins University School of Medicine, 933 Traylor, 720 Rutland Avenue, 21205, Baltimore, MD, USA

    R. D. Burk & Judith Stamberg

  3. The John F. Kennedy Institute, USA

    Judith Stamberg

Authors
  1. R. D. Burk
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  2. Judith Stamberg
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  3. K. E. Young
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  4. K. D. Smith
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Burk, R.D., Stamberg, J., Young, K.E. et al. Use of repetitive DNA for diagnosis of chromosomal rearrangements. Hum Genet 64, 339–342 (1983). https://doi.org/10.1007/BF00292365

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  • DOI: https://doi.org/10.1007/BF00292365

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