ANALYSIS OF PIG-A GENE IN A PATIENT WHO DEVELOPED RECIPROCAL TRANSLOCATION OF CHROMOSOME-12 AND PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA DURING FOLLOW-UP OF APLASTIC-ANEMIA

Citation
Ji. Nishimura et al., ANALYSIS OF PIG-A GENE IN A PATIENT WHO DEVELOPED RECIPROCAL TRANSLOCATION OF CHROMOSOME-12 AND PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA DURING FOLLOW-UP OF APLASTIC-ANEMIA, American journal of hematology, 51(3), 1996, pp. 229-233
Citations number
23
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Hematology
ISSN journal
0361-8609
Volume
51
Issue
3
Year of publication
1996
Pages
229 - 233
Database
ISI
SICI code
0361-8609(1996)51:3<229:AOPGIA>2.0.ZU;2-A
Abstract
The relationships between paroxysmal nocturnal hemoglobinuria (PNH), a plastic anemia (AA), and myelodysplastic syndrome (MDS) are not clear, Here we describe a patient, J20, who developed a reciprocal transloca tion of chromosome 12 and PNH during follow-up of AA. All metaphases i n CD59-deficient bone marrow mononuclear cells had the translocation, whereas none of the CD59-sufficient cells had it, indicating that the PNH clone coincided with a cell population bearing the chromosomal abe rration, We found a somatic sing le-base deletion mutation in the PIG- A gene of this patient's peripheral blood cells, This is the first pat ient with PNH with a PNH clone containing a chromosomal translocation. (C) 1996 Wiley-Liss, Inc.