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Volumn 61, Issue 5, 1997, Pages 411-424

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

(65)  Rendine, S a   Calafell, F a   Cappello, N a   Gagliardini, R b   Caramia, G b   Rigillo, N c   Silvetti, M d   Zanda, M d   Miano, A e   Battistini, F e   Marianelli, L f   Taccetti, G f   Diana, M C g   Romano, L g   Romano, C g   Giunta, A h   Padoan, R h   Pianaroli, A h   Raia, V i   De Ritis, G i   more..

a CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031446288     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0003480097006477     Document Type: Article
Times cited : (68)

References (44)
  • 1
    • 0029681516 scopus 로고    scopus 로고
    • Genetic and geographical variability in cystic fibrosis: Evolutionary considerations
    • ed., . Chichester (Ciba Foundation Symposium 197): Wiley
    • BERTRANPETIT, J. & CALAFELL, F. (1996). Genetic and geographical variability in cystic fibrosis: evolutionary considerations. In Variation in the human genome (ed.), pp. 97-118. Chichester (Ciba Foundation Symposium 197): Wiley.
    • (1996) Variation in the Human Genome , pp. 97-118
    • Bertranpetit, J.1    Calafell, F.2
  • 3
    • 0029891140 scopus 로고    scopus 로고
    • Molecular epidemiology of cystic fibrosis mutations and respective haplotypes in Southern Italy evaluated with an improved semiautomated robotic procedure
    • in press
    • CASTALDO, G., RIPPA, E., SEBASTIO, G., RAIA, V., ERCOLINI, P., DE RITIS, G., SALVATORE, D. & SALVATORE, F. (1996). Molecular epidemiology of cystic fibrosis mutations and respective haplotypes in Southern Italy evaluated with an improved semiautomated robotic procedure. J. Med. Genet. (in press).
    • (1996) J. Med. Genet.
    • Castaldo, G.1    Rippa, E.2    Sebastio, G.3    Raia, V.4    Ercolini, P.5    De Ritis, G.6    Salvatore, D.7    Salvatore, F.8
  • 4
    • 0037739218 scopus 로고
    • Reconstruction of human evolution; bringing together genetic, archaeological, and linguistic data
    • CAVALLI-SFORZA, L. L., PIAZZA, A., MENOZZI, P. & MOUNTAIN, J. L. (1988). Reconstruction of human evolution; bringing together genetic, archaeological, and linguistic data. Proc. Natl. Acad. Sci. USA 85, 6002-6006.
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 6002-6006
    • Cavalli-Sforza, L.L.1    Piazza, A.2    Menozzi, P.3    Mountain, J.L.4
  • 5
    • 0027340998 scopus 로고
    • Demic expansions and human evolution
    • CAVALLI-SFORZA, L. L., MENOZZI, P. & PIAZZA, A. (1993). Demic expansions and human evolution. Science 259, 639-646.
    • (1993) Science , vol.259 , pp. 639-646
    • Cavalli-Sforza, L.L.1    Menozzi, P.2    Piazza, A.3
  • 7
    • 0028299622 scopus 로고
    • Analysis of the CFTR gene confirms the heterogeneity of the Spanish population : 43 mutations account for only 78% of CF chromosomes
    • CHILLÓN, M., CASALS, T., GIMÉNEZ, J., RAMOS, M. D., PALACIO, A., MORRAL, N., ESTIVILL, X. & NUNES, V. (1994). Analysis of the CFTR gene confirms the heterogeneity of the Spanish population : 43 mutations account for only 78% of CF chromosomes. Hum. Genet. 93, 447-451.
    • (1994) Hum. Genet. , vol.93 , pp. 447-451
    • Chillón, M.1    Casals, T.2    Giménez, J.3    Ramos, M.D.4    Palacio, A.5    Morral, N.6    Estivill, X.7    Nunes, V.8
  • 8
    • 0027234275 scopus 로고
    • Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91·2% of the mutant alleles in Southern France
    • CLAUSTRES, M., MAGUELONE, L., DESGEORGES, M., GIANSILY, M., CULARD, J. F., RAZAKATSARA, G., GERRARD, B. & DEMAILLI, J. (1993). Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91·2% of the mutant alleles in Southern France. Hum. Molec. Gen. 2, 1209-1213.
    • (1993) Hum. Molec. Gen. , vol.2 , pp. 1209-1213
    • Claustres, M.1    Maguelone, L.2    Desgeorges, M.3    Giansily, M.4    Culard, J.F.5    Razakatsara, G.6    Gerrard, B.7    Demailli, J.8
  • 10
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM (1994). Population variation of common cystic fibrosis mutations. Hum. Mutat. 4, 167-177.
    • (1994) Hum. Mutat. , vol.4 , pp. 167-177
  • 13
    • 84966170165 scopus 로고
    • Reply to Kaplan, N. L., Lewis, P. O. and Weir, B. S
    • ESTIVILL, X., MORRAL, N. & BERTRANPETIT, J. (1994). Reply to Kaplan, N. L., Lewis, P. O. and Weir, B. S. Nature Genetics 8, 216-218.
    • (1994) Nature Genetics , vol.8 , pp. 216-218
    • Estivill, X.1    Morral, N.2    Bertranpetit, J.3
  • 14
    • 0025134810 scopus 로고
    • Gradient of distribution in Europe of the major CF mutation and of its associated haplotypes
    • EUROPEAN WORKING GROUP ON CF GENETICS (1990). Gradient of distribution in Europe of the major CF mutation and of its associated haplotypes. Hum. Genet. 85, 436-441.
    • (1990) Hum. Genet. , vol.85 , pp. 436-441
  • 15
    • 0026780584 scopus 로고
    • Molecular characterization of Cystic Fibrosis: 16 novel mutations identified by analysis of the whole Cystic Fibrosis Conductance Transmembrane Regulator (CFTR) coding regions and spile site junctions
    • FANEN, P., GHANEM, N., VIDAUD, M., BESMOND, C., MARTIN, J., COSTES, B., PLASSA, F. & GOOSSENS, M. (1992). Molecular characterization of Cystic Fibrosis: 16 novel mutations identified by analysis of the whole Cystic Fibrosis Conductance Transmembrane Regulator (CFTR) coding regions and spile site junctions. Genomics 13, 770-776.
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6    Plassa, F.7    Goossens, M.8
  • 16
    • 0001708655 scopus 로고
    • Evolutionary trees from gene frequencies and quantitative characters: Finding maximum likelihood estimates
    • FELSENSTEIN, J. (1981). Evolutionary trees from gene frequencies and quantitative characters: finding maximum likelihood estimates. Evol. Biol. 35, 1229-1242.
    • (1981) Evol. Biol. , vol.35 , pp. 1229-1242
    • Felsenstein, J.1
  • 17
    • 0000461280 scopus 로고
    • Confidence limits on phylogenies: An approach using the bootstrap
    • FELSENSTEIN, J. (1985). Confidence limits on phylogenies: an approach using the bootstrap. Evolution 39, 783-791.
    • (1985) Evolution , vol.39 , pp. 783-791
    • Felsenstein, J.1
  • 18
    • 0000122573 scopus 로고
    • PHYLIP - Phylogeny Inference Package (Version 3.2)
    • FELSENSTEIN, J. (1989). PHYLIP - Phylogeny Inference Package (Version 3.2). Cladistics 5, 164-166.
    • (1989) Cladistics , vol.5 , pp. 164-166
    • Felsenstein, J.1
  • 19
    • 0026764808 scopus 로고
    • Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
    • FERRIE, R. M., SCHWARZ, M. J., ROBERTSON, N. H., et al. (1992). Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am. J. Hum. Genet. 51, 251-262.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 251-262
    • Ferrie, R.M.1    Schwarz, M.J.2    Robertson, N.H.3
  • 20
    • 0002379614 scopus 로고
    • Biplot display of multivariate matrices for inspection of data and diagnosis
    • ed. B. Barnett, Chichester: Wiley
    • GABRIEL, K. R. (1981). Biplot display of multivariate matrices for inspection of data and diagnosis. In Interpreting multivariate data (ed. B. Barnett), pp. 147-173. Chichester: Wiley.
    • (1981) Interpreting Multivariate Data , pp. 147-173
    • Gabriel, K.R.1
  • 22
    • 0026816352 scopus 로고
    • Restriction Site Generating Polymerase Chain Reaction (PCR) for the probeless detection of hidden genetic variation: Application to the study of some common cystic fibrosis mutations
    • GASPARINI, P., BONIZZATO, A., DOGNINI, M. & PIGNATTI, P. F. (1992). Restriction Site Generating Polymerase Chain Reaction (PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. Mol. Cell Probes 6, 1-7.
    • (1992) Mol. Cell Probes , vol.6 , pp. 1-7
    • Gasparini, P.1    Bonizzato, A.2    Dognini, M.3    Pignatti, P.F.4
  • 23
    • 0027384235 scopus 로고
    • Screening of 62 mutations in a cohort of CF patients from north eastern Italy: Their incidence and clinical features of defined genotypes
    • GASPARINI, P., MARIGO, C., BISCEGLIA, G., NICOLIS, E., ZELANTE, L., BOMBIERI, C., BORGO, G., PIGNATTI, P. F. & CABRINI, G. (1993). Screening of 62 mutations in a cohort of CF patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum. Mutat. 2, 389-394.
    • (1993) Hum. Mutat. , vol.2 , pp. 389-394
    • Gasparini, P.1    Marigo, C.2    Bisceglia, G.3    Nicolis, E.4    Zelante, L.5    Bombieri, C.6    Borgo, G.7    Pignatti, P.F.8    Cabrini, G.9
  • 24
    • 0024560882 scopus 로고
    • Modification of enzymatically amplified DNA for the detection of point mutations
    • HALIASSOS, A., CHOMEL, G., TESSON, L., et al. (1989). Modification of enzymatically amplified DNA for the detection of point mutations. Nuc. Ac. Res. 17, 3606.
    • (1989) Nuc. Ac. Res. , vol.17 , pp. 3606
    • Haliassos, A.1    Chomel, G.2    Tesson, L.3
  • 25
    • 58149421595 scopus 로고
    • Analysis of a complex of statistical variables into principal components
    • HOTELLING, H. (1933). Analysis of a complex of statistical variables into principal components. J. Educ. Psych. 24, 417-441, 498-520.
    • (1933) J. Educ. Psych. , vol.24 , pp. 417-441
    • Hotelling, H.1
  • 26
    • 0014054519 scopus 로고
    • The detection of disease clustering and a generalized regression approach
    • MANTEL, N. (1967). The detection of disease clustering and a generalized regression approach. Cancer Res. 27, 209-220.
    • (1967) Cancer Res. , vol.27 , pp. 209-220
    • Mantel, N.1
  • 29
    • 0002032372 scopus 로고
    • Genetic relationship and evolution of human races
    • NEI, M. & ROYCHOUDHURY, A. K. (1982). Genetic relationship and evolution of human races. Evol. Biol. 14, 1-59.
    • (1982) Evol. Biol. , vol.14 , pp. 1-59
    • Nei, M.1    Roychoudhury, A.K.2
  • 35
    • 0021038163 scopus 로고
    • Estimation of the coancestry coefficient: Basis for a short term genetic distance
    • REYNOLDS, J., WEIR, B. S. & COCKERHAM, C. C. (1983). Estimation of the coancestry coefficient: basis for a short term genetic distance. Genetics 105, 767-779.
    • (1983) Genetics , vol.105 , pp. 767-779
    • Reynolds, J.1    Weir, B.S.2    Cockerham, C.C.3
  • 39
    • 85034671579 scopus 로고
    • Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes
    • SAIKI, R. H., WALSH, P. S., LEVENSON, C. H. & ERLICH, H. A. (1989). Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc. Natl. Acad. Sci. USA 87, 8447-8451.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 8447-8451
    • Saiki, R.H.1    Walsh, P.S.2    Levenson, C.H.3    Erlich, H.A.4
  • 40
    • 0023375195 scopus 로고
    • The neighbor-joining method : A new method for reconstructing phylogenetic trees
    • SAITOU, N. & NEI, M. (1987). The neighbor-joining method : a new method for reconstructing phylogenetic trees. Mol. Biol. Evol. 4, 406-425.
    • (1987) Mol. Biol. Evol. , vol.4 , pp. 406-425
    • Saitou, N.1    Nei, M.2
  • 41
    • 0028980615 scopus 로고
    • Simultaneous detection of DelF508, G542X, N1303K, G551D and 1717-1G-> A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay
    • SANGIUOLO, F., MACARATESI, P., MESORACA, A., et al. (1995). Simultaneous detection of DelF508, G542X, N1303K, G551D and 1717-1G-> A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay. Int. J. Clin. Lab. Res. 25, 142-145.
    • (1995) Int. J. Clin. Lab. Res. , vol.25 , pp. 142-145
    • Sangiuolo, F.1    Macaratesi, P.2    Mesoraca, A.3
  • 43
    • 0017481191 scopus 로고
    • Is the most frequent allele the oldest?
    • WATTERSON, G. A. & GUESS, H. A. (1977). Is the most frequent allele the oldest? Theor. Pop. Biol. 11, 141-160.
    • (1977) Theor. Pop. Biol. , vol.11 , pp. 141-160
    • Watterson, G.A.1    Guess, H.A.2


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