Portal de Periódicos da CAPES

Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene

1996; Wiley; Volume: 8; Issue: 1 Linguagem: Inglês

10.1002/(sici)1098-1004(1996)8

1098-1004

Catherine Badens, Isabelle Thuret, Gérard Michel, Mickaël Krawczak, Jean-François Mattéi, Danielle Lena‐Russo, Dominique Labie, Jacques Élion,

Cannabis and Cannabinoid Research

Human MutationVolume 8, Issue 1 p. 89-92 Mutations in Brief Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene Catherine Badens, Corresponding Author Catherine Badens CERGM, INSERM 406, Faculty of Medicine, Marseille, FranceCERGM, INSERM 406, Faculty of Medicine, Robert Debré Hospital, Marsaille, FranceSearch for more papers by this authorIsabelle Thuret, Isabelle Thuret Pediatric Hematology, Timone Hospital, Marseille, FranceSearch for more papers by this authorGérard Michel, Gérard Michel Pediatric Hematology, Timone Hospital, Marseille, FranceSearch for more papers by this authorMickaël Krawczak, Mickaël Krawczak Institute for Human Genetics, Hannover, GermanySearch for more papers by this authorJean-François Mattei, Jean-François Mattei CERGM, INSERM 406, Faculty of Medicine, Marseille, FranceSearch for more papers by this authorDanielle Lena-Russo, Danielle Lena-Russo CERGM, INSERM 406, Faculty of Medicine, Marseille, FranceSearch for more papers by this authorDominique Labie, Dominique Labie INSERM 120, Robert Debré Hospital, Paris, FranceSearch for more papers by this authorJacques Elion, Jacques Elion INSERM 120, Robert Debré Hospital, Paris, FranceSearch for more papers by this author Catherine Badens, Corresponding Author Catherine Badens CERGM, INSERM 406, Faculty of Medicine, Marseille, FranceCERGM, INSERM 406, Faculty of Medicine, Robert Debré Hospital, Marsaille, FranceSearch for more papers by this authorIsabelle Thuret, Isabelle Thuret Pediatric Hematology, Timone Hospital, Marseille, FranceSearch for more papers by this authorGérard Michel, Gérard Michel Pediatric Hematology, Timone Hospital, Marseille, FranceSearch for more papers by this authorMickaël Krawczak, Mickaël Krawczak Institute for Human Genetics, Hannover, GermanySearch for more papers by this authorJean-François Mattei, Jean-François Mattei CERGM, INSERM 406, Faculty of Medicine, Marseille, FranceSearch for more papers by this authorDanielle Lena-Russo, Danielle Lena-Russo CERGM, INSERM 406, Faculty of Medicine, Marseille, FranceSearch for more papers by this authorDominique Labie, Dominique Labie INSERM 120, Robert Debré Hospital, Paris, FranceSearch for more papers by this authorJacques Elion, Jacques Elion INSERM 120, Robert Debré Hospital, Paris, FranceSearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)8:1 3.0.CO;2-NCitations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Bennani C, Tamousa R, Rouabhi F, Benabadji M, Malou M, Elion J, Labie D, Beljord C (1993) The spectrum of β-thalassemia in Algeria: Possible origins of the molecular heterogeneity and a tentative diagnostic strategy. Br J Haematol 84: 335– 337. The β and δ-Thalassemia Repository, 7th ed (1993) Hemoglobin 17: 479– 499. Cooper D, Krawczak M (1991). Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87: 409– 415. Gianelli F, Green PM, High KA, Lozier JN, Lillicrap DP, Ludwig M, Olek K, Reitsma PH, Goosens M, Yoshioka A, Sommer S, Brownly GG (1990) Haemophilia B: Database of point mutations and short additions and deletions. Nucleic Acids Res 18: 4053– 4059. Labie D, Dunda-Belkhodja O, Rouabhi F, Pagnier J, Ragusa A, Nagel RL (1985) The -158 site 5′ to the Gγ gene and Gγ expression. Blood 66: 1463– 1465. Lindeman R, Hu S, Volpato F, Trent J (1991) Polymerase chain reaction (PCR) mutagenesis enabling rapid non-radioactive detection of common β-thalassaemia mutations in Mediterraneans. Br J Haematol 78: 100– 104. Oner R, Oner C, Wilson JB, Tamagnini GP, Ribeiro LML, Huis-man THJ (1991) Dominant β-thalassemia trait in a portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135,136 and 137 of the β-globine gene. Br J Haematol 79: 306. Orkin S, Kazazian H, Antonarakis S, Goff S, Boehm C, Sexon J, Waber P, Giardina P (1982) Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296: 627– 631. Pagnier J, Mears JG, Dunda-Belkhodja O, Schaeffer-Rego KE, Beljord C, Nagel RL, Labie D (1984) Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci USA 81: 1771– 1773. Ragusa A, Lombardo M, Beldjord C, Ruberto C, Lombardo T, Elion J, Nagel R, Krishnamoorthy R (1992) Genetic epidemiology of β-thalassemia in Sicily: Do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia? Am J Hematol 40: 199– 206. Sampietro M, Thein SL, Contreras M, Pazmany L (1992) Variation of Hb F and F cell numeration with the Gγ XmnI (C-T) polymorphism in normal individuals. Blood 79(3): 832– 833. Shimizu T, Toguchida J, Kato MV, Kaneko A, Ishizaki K, Sasaki MS (1994) Detection of mutations of the RBI gene in retinoblastoma patients by using exon by exon PCR-SSCP analysis. Am J Hum Genet 54(5): 793– 800. Sutton M, Bouhassira E, Nagel RL (1989) Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 32: 66– 69. Thein SL, Hesketh C, Taylor P, Temperley IJ, Hutchinson RM, Old JM, Wood WG, Clegg JB, Weatherall DJ (1990) Molecular basis for dominantly inherited inclusion body β-thalassemia. Proc Natl Acad Sci USA 87: 3924. Trabuchet G, Elion J, Baudot G, Pagnier J, Bouhass R, Nigon V, Labie D, Krishnamoorty R (1991) Origin and spread of β-globin gene mutations in India, Africa and Mediterranea: Analysis of the 5′ flanking and intragenic sequences of βsand βc genes. Hum Biol 63: 241– 252. Thuret I, Michel G, Lena-Russo D, Orsini A, Perrimond H (1993) Evolution clinique de la β-thalasso-drépanocytose: à propos de 36 observations. Pédiatrie 48: 829– 834. Citing Literature Volume8, Issue11996Pages 89-92 ReferencesRelatedInformation