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Hemoglobin
international journal for hemoglobin research
Volume 23, 1999 - Issue 4
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Original Article

Characterization of a New Polymorphism, IVS-I-108 (T→C), and a New β-Thalassemia Mutation, -27 (A→T), Discovered in the Course of a Prenatal Diagnosis

C. Badens Laboratoire des Hémoglobines, CERGM, Faculté de Médecine, 13385, Marseille, FranceCorrespondence[email protected]
,
N. Jassim Laboratoire de Biochimie Génétique/INSERM U458, Hôpital Robert Debré, 75019, Paris, France
,
N. Martini Laboratoire des Hémoglobines, CERGM, Faculté de Médecine, 13385, Marseille, France
,
J. F. Mattei Laboratoire des Hémoglobines, CERGM, Faculté de Médecine, 13385, Marseille, France
,
J. Elion Laboratoire de Biochimie Génétique/INSERM U458, Hôpital Robert Debré, 75019, Paris, France
&
D. Lena-Russo Laboratoire des Hémoglobines, CERGM, Faculté de Médecine, 13385, Marseille, France
Pages 339-344 | Received 10 May 1999, Accepted 07 Jun 1999, Published online: 07 Jul 2009

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Zeyong Li, Lei Li, Yachao Yao, Nan Li, Yahong Li, Zhen Zhang, Fang Yan, Houkuang Qiu, Chunyan Wu & Zhi Zhang. (2015) A Novel Promoter Mutation (HBB: c.-75G>T) Was Identified as a Cause of β+-Thalassemia. Hemoglobin 39:2, pages 115-120.
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M Nadeem Khan & Michael E Pichichero. (2014) The host immune dynamics of pneumococcal colonization: Implications for novel vaccine development. Human Vaccines & Immunotherapeutics 10:12, pages 3688-3699.
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John S. Waye, Lisa M. Nakamura-Garrett, Barry Eng, Emmanuel Kanavakis & Joanne Traeger-Synodinos. (2011) β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]. Hemoglobin 35:1, pages 84-86.
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Rasoul Salehi, Christopher A. Fisher, Patricia A. Bignell, Gilda Eslami & John M. Old. (2010) Identification of Three Novel Mutations [−41 (A>C), codon 24 (–G), and IVS-I-109 (−T)], in a Study of β-Thalassemia Alleles in the Isfahan Region of Iran. Hemoglobin 34:1, pages 115-120.
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Barry Eng, Lynda Walker, Lisa M. Nakamura, Carolyn Hoppe, Mahin Azimi, Helen Lee & John S. Waye. (2007) Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening. Hemoglobin 31:2, pages 129-134.
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Articles from other publishers (12)

Sarah K. TopferRuopeng FengPeng Huang, Lana C. Ly, Gabriella E. MartynGerd A. Blobel, Mitchell J. WeissKate G. R. Quinlan & Merlin Crossley. (2022) Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expression. Blood 139:14, pages 2107-2118.
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Paloma Ropero, Sara Erquiaga, Beatriz Arrizabalaga, Germán Pérez, Silvia de la Iglesia, María José Torrejón, Celia Gil, Cela Elena, María Tenorio, Jorge M Nieto, Félix de la Fuente-Gonzalo, Ana Villegas, Fernando-Ataúlfo González Fernández & Rafael Martínez. (2017) Phenotype of mutations in the promoter region of the β-globin gene. Journal of Clinical Pathology 70:10, pages 874-878.
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Gabriella E. Martyn, Kate G.R. Quinlan & Merlin Crossley. (2017) The regulation of human globin promoters by CCAAT box elements and the recruitment of NF-Y. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 1860:5, pages 525-536.
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Mikhail Ponomarenko, Dmitry Rasskazov, Olga Arkova, Petr Ponomarenko, Valentin Suslov, Ludmila Savinkova & Nikolay Kolchanov. (2015) How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene’s Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter. BioMed Research International 2015, pages 1-17.
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Irina Drachkova, Ludmila Savinkova, Tatyana Arshinova, Mikhail Ponomarenko, Sergey Peltek & Nikolay Kolchanov. (2014) The Mechanism by which TATA-Box Polymorphisms Associated with Human Hereditary Diseases Influence Interactions with the TATA-Binding Protein. Human Mutation 35:5, pages 601-608.
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Ludmila Savinkova, Irina Drachkova, Tatyana Arshinova, Petr Ponomarenko, Mikhail Ponomarenko & Nikolay Kolchanov. (2013) An Experimental Verification of the Predicted Effects of Promoter TATA-Box Polymorphisms Associated with Human Diseases on Interactions between the TATA Boxes and TATA-Binding Protein. PLoS ONE 8:2, pages e54626.
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I. A. Drachkova, T. V. Arshinova, P. M. Ponomarenko, T. I. Merkulova, N. A. Kolchanov & L. K. Savinkova. (2011) Effect of TATA Box polymorphisms in human β-globin gene promoter associated with β-thalassemia on interaction with TATA-binding protein. Russian Journal of Genetics: Applied Research 1:3, pages 183-188.
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P. M. Ponomarenko, M. P. Ponomarenko, I. A. Drachkova, M. V. Lysova, T. V. Arshinova, L. K. Savinkova & N. A. Kolchanov. (2009) Prediction of the affinity of the TATA-binding protein to TATA boxes with single nucleotide polymorphisms. Molecular Biology 43:3, pages 472-479.
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L. K. Savinkova, M. P. Ponomarenko, P. M. Ponomarenko, I. A. Drachkova, M. V. Lysova, T. V. Arshinova & N. A. Kolchanov. (2009) TATA box polymorphisms in human gene promoters and associated hereditary pathologies. Biochemistry (Moscow) 74:2, pages 117-129.
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Marina Boussiou, Photini Karababa, Klio Sinopoulou, Panagiotis Tsaftaridis, Eleni Plata & Aphrodite Loutradi-Anagnostou. (2008) The molecular heterogeneity of β-thalassemia in Greece. Blood Cells, Molecules, and Diseases 40:3, pages 317-319.
Crossref
Leonid M Irenge, Michel Heusterspreute, Marianne Philippe, Isabelle Derclaye, Annie Robert & Jean-Luc Gala. (2002) Validation of a Recombinant DNA Construct (μLCR and Full-Length β-Globin Gene) for Quantification of Human β-Globin Expression: Application to Mutations in the Promoter, Intronic, and 5′- and 3′-Untranslated Regions of the Human β-Globin Gene. Clinical Chemistry 48:10, pages 1787-1791.
Crossref
D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .

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