The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia

British Journal of Haematology

Volumn 102, Issue 5, 1998, Pages 1341-1343

  Harrison, Claire N ^a   Gale, Rosemary E ^a   Wiestner, Adrian C ^b   Skoda, Radek C ^b   Linch, David C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF BASEL   (Switzerland)

Author keywords

Essential thrombocythaemia; Mutation; Thrombopoietin

Indexed keywords

DNA; THROMBOPOIETIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; RNA SPLICING; THROMBOCYTOPENIA; THROMBOTIC THROMBOCYTOPENIC PURPURA;

EID: 0031668547     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.1998.00921.x     Document Type: Article

References (11)

1. El-Kassar, N., Hetet, G., Briere, J. & Grandchamp, B. (1997) Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. Blood, 89, 128-134.
2. Fielder, P.J., Hass, P., Nagel, M., Stefanich, E., Widmer, R., Bennett, G.L., Keller, G.-A., de Sauvage, F.J. & Eaton, D. (1997) Human platelets as a model for the binding and degradation of thrombopoietin. Blood, 89, 2782-2788.
3. Gustincich, S., Manfioletti, G., Del Sal, G., Schneider, C. & Carninci, P. (1991) A fast method for high-quality genomic DNA extraction from human whole blood. BioTechniques, 11, 298-301.
4. Harrison, C.N., Gale, R.E., Machin, S.J. & Linch, D.C. (1997) Polyclonal hemopoiesis is frequent in patients diagnosed with essential thrombocythemia. Blood, 90, (Suppl. 1), 347a.
5. Horikawa, Y., Matsumura, I., Hashimoto, K., Shiraga, M., Kosugi, S., Tadokoro, S., Kato, T., Miyazaki, H., Tomiyama, Y., Kurata, Y., Matsuzawa, Y. & Kanakura, Y. (1997) Markedly reduced expression of platelet c-mpl receptor in essential thrombocythemia. Blood, 90, 4031-4038.
6. Ichikara, N., Ishida, F., Shimodaira, S., Tahara, T., Kato, T. & Kitano, K. (1996) Regulation of serum thrombopoietin levels by platelets and megakaryocytes in patients with aplastic anaemia and idiopathic thrombocytopenic purpura. Thrombosis and Haemostasis, 76, 156-160.
7. Kiladjian, J.J., Elkassar, N., Hetet, G., Briere, J., Grandchamp, B. & Gardin, C. (1997) Study of the thrombopoietin receptor in essential thrombocythemia. Leukemia, 11, 1821-1826.
8. Moliterno, A.R., Hankins, W.D. & Spivak, J.L. (1998) Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. New England Journal of Medicine, 338, 572-580.
9. Murphy, S., Iland, H., Rosenthal, D. & Laszlo, J. (1986) Essential thrombocythemia: an interim report from the Polycythemia Vera Study Group. Seminars in Hematology, 23, 177-182.
10. Tahara, T., Usuki, K., Sato, H., Ohashi, H., Morita, H., Tsumura, H., Matsumoto, A., Miyazaki, H., Urabe, A. & Kato, T. (1996) A sensitive sandwich ELISA for measuring thrombopoietin in human serum: serum thrombopoietin levels in healthy volunteers and in patients with haemopoietic disorders. British Journal of Haematology, 93, 783-788.
11. Wiestner, A., Schlemper, R.J., van der Maas, A.P.C. & Skoda, R. (1998) An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nature Genetics, 18, 49-52.