Analysis ofPIG-A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow-up of aplastic anemia
✍ Scribed by Nishimura, Jun-Ichi; Inoue, Norimitsu; Azenishi, Yasuhiko; Hirota, Toshiyuki; Akaogi, Teruaki; Shibano, Masaru; Kawagoe, Kazuyoshi; Ueda, Etsuko; Machii, Takashi; Takeda, Junji; Kinoshita, Taroh; Kitani, Teruo
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 447 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0361-8609
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✦ Synopsis
The relationships between paroxysmal nocturnal hemogloblnuria (PNH), aplastlc anemia (AA), and myelodysplastlc syndrome (MDS) are not clear. Here we describe a patient, J20, who developed a reciprocal translocation of chromosome 12 and PNH during follow-up of AA. All metaphases In CD59-deflcient bone marrow mononuclear cells had the translocation, whereas none of the CD59-sufficient cells had it, Indicating that the PNH clone colnclded with a cell population bearing the chromosomal aberration. We found a somatic singlebase deletion mutation In the PIG4 gene of this patient's peripheral blood cells. This is the first patient with PNH with a PNH clone containing a chromosomal translocation. Q 1996 wileyiiu, Inc.