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Cystic fibrosis: typing 89 German families with linked DNA probes

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Summary

Three hundred and ninety-two subjects from 89 German families were typed for restriction fragment length polymorphisms (RFLPs) detected by the probes pmetH, pmetD, pJ3.11, KM19, and XV2c known to be tightly linked to the cystic fibrosis (CF) gene. The analysis of the predictive value of this typing in individual CF families indicates that the combined use of these probes provides a powerful diagnostic system for both carrier detection and prenatal diagnosis. In 45 families the complete haplotype including all RFLPs was available. Of them 41 (91.1%) were fully informative and 4 were partly informative.

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References

  • Baur MP, Danilos JA (1980) Population analysis of HLA-A, B, C, D and other genetic markers. In: Terasaki PJ (ed) Histocompatibility testing 1980. Tissue Typing Laboratory, UCLA, Los Angeles, Calif, pp 955–1210

    Google Scholar 

  • Beaudet A, Bowcock A, Buchwald M, Cavalli-Sforza L, Farrall M, King, M-C, Klinger K, LalouelJ-M, Lathrop G, Naylor S, Ott J, Tsui L-C, Wainwright B, Watkins P, White R, WilliamsonR (1986) Linkage of cystic fibrosis to two tightly linked DNA-markers: joint report from a collaborative study. Am J Hum Genet 39:681–683

    Google Scholar 

  • Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KMF, Lench NJ, Bates GP, Kruyer HC, Frederick PA, Stainer P, Watson EK, Williamson R, Wainwright BJ (1987a) A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326:840–845

    Google Scholar 

  • Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M (1987b) Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1:257–263

    Google Scholar 

  • Farrall M, Law HY, Rodeck CH, Warren R, Staier P, Super M, Lissens W, Scambler P, Watson E, Wainwright BJ, Williamson R (1986) First trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet I:1402–1404

    Google Scholar 

  • Mathy L, Kampmann W, Higuchi M, Schwartenbeck G, Bartholome K, Driesel AJ, Grzeschik K-H, Olek K (1987) Cystic fibrosis: 48 German families with linked DNA probes. Hum Genet 75:359–361

    Google Scholar 

  • Mornet E, Serre J-L, Farrall M, Boue J, Simon-Bony B, Estivill X, Williamson R, Bone A (1988) Genetic differences between cystic fibrosis with and without meconium ileus. Lancet I:376–378

    Google Scholar 

  • Neugebauer M, Williams J, Baur MP (1984) Analysis of multilocus pedigree data by computer. In: Albert ED, Baur MP, Mayr WR (eds) Histocompatibility testing 1984. Springer, Berlin Heidelberg New York, pp 52–58

    Google Scholar 

  • Wainwright B, Scambler P, Schmidtke J, Watson EA, Law HY, FarrallM, Cooke HJ, Eiberg H, Williamson R (1985) Localization of cystic fibrosis locus to human chromosome 7 cen-q22. Nature 318: 384–385

    Google Scholar 

  • White R, Woodward S, Leppert M, O'Conell P, Hoff M, Herbst J, Lalouel J-M, Dean M, Van de Woude G (1985) A closely linked genetic marker for cystic fibrosis. Nature 318:382–384

    Google Scholar 

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Weber, J., Aulehla-Scholz, C., Kaiser, R. et al. Cystic fibrosis: typing 89 German families with linked DNA probes. Hum Genet 81, 54–56 (1988). https://doi.org/10.1007/BF00283729

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  • DOI: https://doi.org/10.1007/BF00283729

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