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Abnormalities in DNA rearrangements of immunoglobulin gene loci in precursor B cells derived from X-linked agammaglobulinemia patient and a severe combined immunodeficiency patient

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Abstract

In an attempt to characterize the genes that cause immunodeficiencies such as X-linked agammaglobulinemia (XLA) and severe combined immunodeficiency (SCID) we established precursor B-cell lines by transforming the patients' bone marrow cells with Epstein-Barr viruses. DNA rearrangements of immunoglobulin JH gene loci were observed on both chromosomes in pre-B cells derived from an XLA patient. We cloned and characterized both rearranged bands from one cell line. Both of the rearrangements occurred between D H and J H gene loci without the VH DH structure. On the other hand, JH gene loci retained the germline configuration on both chromosomes in almost all the transformants derived from a SCID patient that had been determined according to their surface markers, to be in an early precursor B-cell stage. The implications of the observations are discussed.

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Authors and Affiliations

  1. Institute for Comprehensive Medical Science, Fujita-Gakuen Health University, Toyoake, 470-11, Aichi, Japan

    Yoshikazu Ichihara, Hisashi Yasui & Yoshikazu Kurosawa

  2. Department of Pediatrics, Nagoya University School of Medicine, Tsurumai, Showa-ku, 466, Nagoya, Japan

    Hiroshi Matsuoka, Ikuya Tsuge, Jun-ichi Okada & Shinpei Torii

  3. Toyota Hospital, 471, Toyota, Japan

    Jun-ichi Okada

Authors
  1. Yoshikazu Ichihara
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  2. Hiroshi Matsuoka
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  3. Ikuya Tsuge
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  4. Jun-ichi Okada
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  5. Shinpei Torii
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  6. Hisashi Yasui
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  7. Yoshikazu Kurosawa
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Ichihara, Y., Matsuoka, H., Tsuge, I. et al. Abnormalities in DNA rearrangements of immunoglobulin gene loci in precursor B cells derived from X-linked agammaglobulinemia patient and a severe combined immunodeficiency patient. Immunogenetics 27, 330–337 (1988). https://doi.org/10.1007/BF00395128

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  • DOI: https://doi.org/10.1007/BF00395128

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