Mutation in Brief
Free Access
40 kilobase deletion (CF 40 kb del 4–10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene
Françoise Chevalier-Porst,
Anne-Marie Bonardot,
Jean-Pierre Chazalette,
Monique Mathieu,
Dominique Bozon,
Corresponding Author
Françoise Chevalier-Porst
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Biochimie Pédiatrique, Hǒpital Debrousse, 29 Rue Soeur Bouvier, 69322 Lyon Cedex 05, FranceSearch for more papers by this authorAnne-Marie Bonardot
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Search for more papers by this authorJean-Pierre Chazalette
Service de Pédiatrie, Hǒpital Renée Sabran, Hyeres, France
Search for more papers by this authorMonique Mathieu
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Search for more papers by this authorDominique Bozon
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Search for more papers by this authorFrançoise Chevalier-Porst,
Anne-Marie Bonardot,
Jean-Pierre Chazalette,
Monique Mathieu,
Dominique Bozon,
Corresponding Author
Françoise Chevalier-Porst
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Biochimie Pédiatrique, Hǒpital Debrousse, 29 Rue Soeur Bouvier, 69322 Lyon Cedex 05, FranceSearch for more papers by this authorAnne-Marie Bonardot
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Search for more papers by this authorJean-Pierre Chazalette
Service de Pédiatrie, Hǒpital Renée Sabran, Hyeres, France
Search for more papers by this authorMonique Mathieu
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Search for more papers by this authorDominique Bozon
Biochimie Pédiatrique, Hǒpital Debrousse, Lyon Cedex, France
Search for more papers by this author
References
- Chillon M, Nunes V, Estivill X (1991) SSCP-polymorphism in intron 12 of the CFTR gene recognized by Bcl I. Nucleic Acids Res 19: 6343.
- Deka R, De Croo S, Yu LM, Ferrell RE (1992) Variable number of tandem repeat (VNTR) polymorphism at locus D17S5 (YNZ22) in four ethnically defined human populations. Hum Genet 90: 86–90.
- Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380: 152–154.
- Dörk T, Wulbrand U, Tümmler B (1991) A Hinfl polymorphism in the cystic fibrosis gene CFTR. Nucleic Acids Res 19: 2517.
- Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KMF, Lench NJ, Bates GP, Kruyer HC, Frederick PA, Stanier P, Watson EK, Williamson R, Wainwright BJ (1987) A candidate gene for the cystic fibrosis locus isolated by selection for methylation free islands. Nature 326: 840–845.
- Henthorn PS, Smithies O, and Mager DL (1990) Molecular analysis of deletions in the Human β-Globin gene cluster: deletion junctions and locations of breakpoints. Genomics, 6: 226–237.
- Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: Genetic analysis. Science 245: 1073–1080.
- Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Collins FS, Rommens JR, Tsui LC (1990) Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87: 8447–8451.
- Lehrman MA, Schneider WJ, Sudhof TC, Brown MS, Goldstrein JL, and Russell DW (1985) Mutation in LDL receptor: Alu-Alu re-combination deletes exons encoding transmembrane and cytoplasmic domains. Science 227: 140–146.
- Morral N, Nunes V, Casals T, Estivill X (1991) CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics 10: 692–698.
- Morral N, Girbau E, Zielenski J, Nunes V, Casals T, Tsui LC, Estivill X (1992) Dinucleotide (CA/GT) repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Genet 88: 356.
- Morral N, Nunes V, Casals T, Cobos N, Asenio O, Dapena J, Estivill X (1993) Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): Identification of a 50 kilobase deletion. Hum Mol Genet 2, 6: 677–681.
- Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm MI, Iannuzzi M, Collins FS, Tsui LC (1989) Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245: 1066–1073.
- Rommens JM, Iannuzzi MC, Kerem BS, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS (1989) Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245: 1059–1066.
- Schwartz DC, Cantor CR (1984) Separation of yeast chromosome-sized DNAs by pulsed field gel gradient electrophoresis. Cell 37: 67–75.
- Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R (1985) Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature 318: 384–385.
- Wong Z, Wilson V, Jeffreys AJ, Thein SL (1986a) Cloning a selected fragment from a human DNA “fingerprint”: Isolation of an extremely polymorphic minisatellite. Nucleic Acids Res 14: 4605–4616.
- Wong Z, Wilson V, Jeffreys AJ, Thein SL (1986b) Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann Hum Genet 51: 269–288.
- Woods-Samuels P, Kazazian HH Jr, and Antonarakis SE (1991) Nonhomologous recombination in the human genome: deletions in the Human Factor VIII gene. Genomics 10: 94–101.
- Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens JM, Tsui LC (1991b) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10: 214–228.
- Zielenski J, Markiewicz D, Rininsland F, Rommens JR, Tsui LC (1991c) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the CFTR gene. Am J Hum Genet 49: 1256–1262.
