Summary
We analyzed DNA of ten cystic fibrosis (CF) patients representing DNA of 19 different CF chromosomes and screened for deletions by means of field inversion gel electrophoresis (FIGE). No differences were detected after digestion of the DNA samples with the restriction enzymes Not I and Sfi I and hybridization with the probes MetH, MetD, J3.11, and 7C22. Thus the percentage of deletions occurring within the CF region and detectable with FIGE is less than 15.2% (95% confidence interval, N=19)
Similar content being viewed by others
References
Beaudet A, Bowcock A, Buchwald M, Cavalli-Sforza L, Farrall M, King MC, Klinger K, Lalouel JM, Lathrop G, Naylor S, Ott J, Tsui LC, Wainwright B, Watkins P, White R, Williamson R (1986) Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet 39: 681–693
Carle GF, Frank M, Olson MV (1986) Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. Science 232:65–68
Dean M, O'Connell P, Leppert M, Park M, Amos JA, Phillips DG, White R, Vande Woude GF (1987) Three additional DNA polymorphisms in met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis. J Pediatr 111:490–495
Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KM, Lench NJ, Bates GP, Kruyer HC, Frederick PA, Stanier P, Watson EK, Williamson R, Wainright BJ (1987) A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326:840–845
Feinberg AP, Vogelstein B (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13
Goossens M, Dozy A, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW (1980) Triplicated alpha-globin loci in humans. Proc Natl Acad Sci USA 77:518–521
Kenwrick S, Patterson M, Speer A, Fischbeck K, Davies K (1987) Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell 48:351–357
Klinger KW, Wingqvist R, Andreasen PA, Stuart N, Stanislovitis P, Watkins P, Schwartz R, Doherty R, Alitalo K, Blasi F, Dano K (1987) Assignment of the human plasminogen activator inhibitor type 1 (PAI-1) gene to 7q21.3-q22 and genetic linkage to markers on chromosome 7. Am J Hum Genet 41:A172
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA (1985) Specific cloning of DNA fragments absent from the DNA of a male patient with an X-chromosome deletion. Proc Natl Acad Sci USA 82:4778–4782
Scambler PJ, Wainwright BJ, Watson E, Bates G, Bell G, Williamson R, Farrall M (1986) Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res 14:1951–1956
Schmidtke J, Krawczak M, Schwartz M, Alkan M, Bonduelle M, Buhler E, Chemke M, Darnedde T, Domagk J, Frey D, Fryburg K, Halley D, Hundrieser J, Ladanyi L, Libaers I, Lissens W, Machler M, Malik NJ, Morreau J, Neubauer W, Oostra B, Pape B, Poncin JE, Schinzel A, Simon P, Trefz FK, Tummler B, Vassart G, Voss R (1987) Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci. Hum Genet 76:337–343
Van Ommen GJB, Verkerk JMH (1986) Restriction analysis of chromosomal DNA in a size range up to two million base pairs by pulsed field gradient electrophoresis. In: Davies KE (ed) Human genetic disease, a practical approach. IRL Press, Oxford, pp 113–133
Van Ommen GJB, Verkerk JMH, Hofker MH, Monaco AP, Kunkel LM, Ray P, Worton R, Wieringa B, Bakker E, Pearson PL (1986) A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell 47:499–504
Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R (1985) Localization of the cystic fibrosis locus to human chromosome 7cen-q22. Nature 318:384–385
Wainwright BJ, Tsui L-C, Leppert M, Buchwald M, Estivill X, O'Connell PO, Lathrop M, Lalouel JM, White R, Williamson R, Farrall M (1987) Linkage of DNA probe B79a(D7S13) to cystic fibrosis. Am J Hum Genet 41:944–947
Weatherall DJ, Clegg JB (1979) Recent developments in the molecular genetics of human hemoglobin. Cell 16:467–479
White R, Woodward S, Leppert M, O'Connell P, Hoff M, Herbst J, Lalouel JM, Dean M, Vande Woude G (1985) A closely linked genetic marker for cystic fibrosis. Nature 318:382–384
Winter RM, Pembrey ME (1982) Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy? Am J Med Genet 12:437–441
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Morreau, J., Sinaasappel, M., Oostra, B.A. et al. Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis. Hum Genet 79, 64–67 (1988). https://doi.org/10.1007/BF00291712
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00291712