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Patient-Specific Probes for Preimplantation Genetic Diagnosis of Structural and Numerical Aberrations in Interphase Cells

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Abstract

Purpose: Our purpose was to evaluate the utility of translocation breakpoint-spanning DNA probes for prenatal genetic diagnosis of structural and numerical chromosome aberrations in interphase cells.

Methods: Breakpoint-spanning translocation probes were isolated from large insert DNA libraries and labeled so that the breakpoint regions were stained in different colors. Hybridization conditions were optimized using blastomeres biopsied from donated embryos. Probes were then applied to analyze patient blastomeres.

Results: We prepared translocation breakpoint-specific probes for 18 in vitro fertilization patients. Here, we describe the preparation of probes for two patients carrying balanced translocations involving chromosome 11 [t(11;22)(q23;q11), t(6;11)(p22.1;p15.3)]. The breakpoint cloning procedure could be accomplished in about 3–5 weeks. Additional time was needed to optimize probes. Application of probes demonstrated numerical as well as structural abnormalities.

Conclusions: Breakpoint-spanning probes allow chromosome analysis in interphase cells as required for preimplantation genetic diagnosis screening of blastomeres.

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Authors and Affiliations

  1. Life Sciences Division, University of California, E. O. Lawrence Berkeley National Laboratory, Berkeley, California, 94720

    Heinz-Ulli G. Weier & Jingly Fung

  2. The Institute for Reproductive Medicine and Science, Saint Barnabas Medical Center, Livingston, New Jersey, 07052

    Santiago Munné

  3. Reproductive Genetics Unit, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California, 94143-0720

    Jingly Fung

Authors
  1. Heinz-Ulli G. Weier
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  2. Santiago Munné
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  3. Jingly Fung
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Weier, HU.G., Munné, S. & Fung, J. Patient-Specific Probes for Preimplantation Genetic Diagnosis of Structural and Numerical Aberrations in Interphase Cells. J Assist Reprod Genet 16, 182–191 (1999). https://doi.org/10.1023/A:1020360706317

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