Two more inv(16) acute myeloid leukemia cases with infrequent CBFβ-MYH11 fusion transcript: clinical and molecular findings

作者： Edmond S.K. Ma

DOI:

关键词: Gene mutation 、 Hemoglobin 、 Hemoglobin A 、 Valine 、 Molecular biology 、 Asparagine 、 Aspartic acid 、 Hemoglobin variants 、 Protein subunit 、 Chemistry

摘要: 1. Imamura T, Fujita S, Ohta Y, Hanada M, Yanase T. Hemoglobin Yoshizuka (G10(108) β asparagine → aspartic acid): a new variant with reduced oxygen affinity from Japanese family. J Clin Invest 1969; 48:2341–8. 2. Moo-Penn WF, Wolff JA, Simon G, Vacek Jue DL, Johnson MH. Presbyterian: β108 (G10) leads to lysine, hemoglobin low affinity. FEBS Lett 1978; 92:53–6. 3. Kohne E, Behnken LJ, Leupold D, Rogge H, Martin Kleihauer E. Presbyterian [β108 Asn replaced by Lys] in German 1979; 3:365–70. 4. Horst J, Oehme R, DNA restriction mapping identifies the chromosome carrying mutant Hb β-globin gene. Hum Genet 1983; 64:2636. 5. Huisman THT, Carver MFH, Efremov GD. A Syllabus of Human Variants. The Sickle Cell Anemia Foundation, Augusta, GA, USA; 1996. p. 240–1. 6. Frischknecht Spcich Bloch KE, Fehr Tuchschmid P, Jenni R. Schlierbach or β108(G10)Asn→Ile: detected Swiss 1999; 23:83–7. 7. Harano K, Shibata Mori Ueda Imai Seki M. Asn→Lys] found Japan. 1984; 8:407–11. 8. Tsai C-H, Shen TJ, Ho NT, C. Effects substitutions lysine and acid for at tryptophan valine α96 on structural functional properties human normal adult hemoglobin: roles α1β1 α1β2 subunit interfaces cooperative oxygenation process. Biochemistry 38:8751–61. 9. O’Donnell JK, Birch Parsons CT, White SP, Okabe MJ, et al. Influence chemical nature side chain modulation chloride ions. Biol Chem 1994; 269:27692–9. 10. Ma SK, Ha SY, Chan AYY, GCF, Lau YL, LC. Two novel β-thalassemia alleles Chinese: IVS-II-2 (–T) nucleotide +8 (C→T) gene mutations. 2000; 24:327–32. 11. Villegas A, Wilson JB, Chen SS, Calero F, Reinares L, THJ, Haemoglobin [β 108 →Lys] Spanish Acta Haematologica 1986; 76: 161–3. more inv(16) acute myeloid leukemia cases infrequent CBFβ-MYH11 fusion transcript: clinical molecular findings

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参考文章(10)

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AH Elmaagacli, DW Beelen, M Kroll, S Trzensky, C Stein, UW Schaefer, Detection of CBFβ/MYH11 fusion transcripts in patients with inv(16) acute myeloid leukemia after allogeneic bone marrow or peripheral blood progenitor cell transplantation Bone Marrow Transplantation. ,vol. 21, pp. 159- 166 ,(1998) , 10.1038/SJ.BMT.1701056

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Silvia Buonamici, Emanuela Ottaviani, Nicoletta Testoni, Vittorio Montefusco, Giuseppe Visani, Francesca Bonifazi, Marilina Amabile, Carolina Terragna, Deborah Ruggeri, Pier Paolo Piccaluga, Alessandro Isidori, Michele Malagola, Michele Baccarani, Sante Tura, Giovanni Martinelli, Real-time quantitation of minimal residual disease in inv(16)-positive acute myeloid leukemia may indicate risk for clinical relapse and may identify patients in a curable state Blood. ,vol. 99, pp. 443- 449 ,(2002) , 10.1182/BLOOD.V99.2.443

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Two more inv(16) acute myeloid leukemia cases with infrequent CBFβ-MYH11 fusion transcript: clinical and molecular findings

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Two more inv(16) acute myeloid leukemia cases with infrequent CBFβ-MYH11 fusion transcript: clinical and molecular findings

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