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Science 8 September 1989:
Vol. 245. no. 4922, pp. 1059 - 1065
DOI: 10.1126/science.2772657
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Articles

Science, Vol 245, Issue 4922, 1059-1065
Copyright © 1989 by American Association for the Advancement of Science

articles

Identification of the cystic fibrosis gene: chromosome walking and jumping

JM Rommens, MC Iannuzzi, B Kerem, ML Drumm, G Melmer, M Dean, R Rozmahel, JL Cole, D Kennedy, N Hidaka, and al. et

Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.

An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product. In the absence of direct functional information, chromosomal map position is a guide for locating the gene. Chromosome walking and jumping and complementary DNA hybridization were used to isolate DNA sequences, encompassing more than 500,000 base pairs, from the cystic fibrosis region on the long arm of human chromosome 7. Several transcribed sequences and conserved segments were identified in this cloned region. One of these corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.


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S. Schmidt, E. A. Postel, A. Agarwal, I. C. Allen Jr, S. N. Walters, M. A. De La Paz, W. K. Scott, J. L. Haines, M. A. Pericak-Vance, and J. R. Gilbert (2003)
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M. R. Maduro, K. C. Lo, W. W. Chuang, and D. J. Lamb (2003)
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Alternative 5' exons of the CFTR gene show developmental regulation.
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JAMA 286, 2289-2295
   Abstract »    Full Text »    PDF »
Examining basal chloride transport using the nasal potential difference response in a murine model.
K. G. Brady, T. J. Kelley, and M. L. Drumm (2001)
Am J Physiol Lung Cell Mol Physiol 281, L1173-L1179
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Fluorescent, Multiplexed, Automated, Primer-Extension Assay for 3120+1G->A and I148T Mutations in Cystic Fibrosis.
N. M. Brown, S. Bernacki, V. M. Pratt, and T. T. Stenzel (2001)
Clin. Chem. 47, 2053-2055
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Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
M. D Amaral, P. Pacheco, S. Beck, C. M Farinha, D. Penque, P. Nogueira, C. Barreto, B. Lopes, T. Casals, J. Dapena, et al. (2001)
J. Med. Genet. 38, 777-783
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Duplex Scorpion primers in SNP analysis and FRET applications.
A. Solinas, L. J. Brown, C. McKeen, J. M. Mellor, J. Nicol, N. Thelwell, and T. Brown (2001)
Nucleic Acids Res. 29, e96
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A Combined Analysis of the Cystic Fibrosis Transmembrane Conductance Regulator: Implications for Structure and Disease Models.
J.-M. Chen, C. Cutler, C. Jacques, E. Denamur, G. Lecointre, B. Mercier, G. Cramb, and C. Ferec (2001)
Mol. Biol. Evol. 18, 1771-1788
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An element in intron 1 of the CFTR gene augments intestinal expression in vivo.
R. K. Rowntree, G. Vassaux, T. L. McDowell, S. Howe, A. McGuigan, M. Phylactides, C. Huxley, and A. Harris (2001)
Hum. Mol. Genet. 10, 1455-1464
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Linkage Disequilibrium Between Microsatellite Markers Extends Beyond 1 cM on Chromosome 20 in Finns.
K. L. Mohlke, E. M. Lange, T. T. Valle, S. Ghosh, V. L. Magnuson, K. Silander, R. M. Watanabe, P. S. Chines, R. N. Bergman, J. Tuomilehto, et al. (2001)
Genome Res. 11, 1221-1226
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The Use of Intraallelic Variability for Testing Neutrality and Estimating Population Growth Rate.
M. Slatkin and G. Bertorelle (2001)
Genetics 158, 865-874
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Cooh-Terminal Truncations Promote Proteasome-Dependent Degradation of Mature Cystic Fibrosis Transmembrane Conductance Regulator from Post-Golgi Compartments.
M. Benharouga, M. Haardt, N. Kartner, and G. L. Lukacs (2001)
J. Cell Biol. 153, 957-970
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An Analysis of Allelic Variation in the ABCA4 Gene.
A. R. Webster, E. Héon, A. J. Lotery, K. Vandenburgh, T. L. Casavant, K. T. Oh, G. Beck, G. A. Fishman, B. L. Lam, A. Levin, et al. (2001)
Invest. Ophthalmol. Vis. Sci. 42, 1179-1189
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Interleukin-5 inhibition of biliary cell chloride currents and bile flow.
J. M. McGill, M. S. Yen, O. W. Cummings, G. Alpini, G. LeSage, K. E. Pollok, B. Miller, S. K. Engle, and A. P. Stansfield (2001)
Am J Physiol Gastrointest Liver Physiol 280, G738-G745
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Characterization of control and immobilized skeletal muscle: an overview from genetic engineering.
J. ST-AMAND, K. OKAMURA, K. MATSUMOTO, S. SHIMIZU, and Y. SOGAWA (2001)
FASEB J 15, 684-692
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