Skip to main content
Log in

Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

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)

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

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

    Google Scholar 

  • Carle GF, Frank M, Olson MV (1986) Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. Science 232:65–68

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • Feinberg AP, Vogelstein B (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • Weatherall DJ, Clegg JB (1979) Recent developments in the molecular genetics of human hemoglobin. Cell 16:467–479

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints 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

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291712

Keywords

Navigation