Skip to main content
PMC home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1986 Nov 11;14(21):8681–8686. doi: 10.1093/nar/14.21.8681

Genetic homogeneity of cystic fibrosis.

K Klinger, P Stanislovitis, N Hoffman, P C Watkins, R Schwartz, R Doherty, P Scambler, M Farrall, R Williamson, B Wainwright
PMCID: PMC311886  PMID: 3786136

Abstract

We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the met oncogene locus on chromosome 7 had been previously indicated. We now report linkage between CF and pJ3.11 (Z = 4.92, theta = 0) and between CF and 7C22 (Z = 3.42, theta = 0). Therefore, CF segregates in these large pedigrees in a manner consistent with data from smaller outbred families with respect to the markers on chromosome 7 closest to CF. These data are consistent with locus homogeneity for the defect causing CF in the populations that have been examined to date.

Full text

PDF
8683

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson C. M., Allan J., Johansen P. G. Comments on the possible existence and nature of a heterozygote advantage in cystic fibrosis. Bibl Paediatr. 1967;86:381–387. [PubMed] [Google Scholar]
  2. Conneally P. M., Edwards J. H., Kidd K. K., Lalouel J. M., Morton N. E., Ott J., White R. Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet. 1985;40(1-4):356–359. doi: 10.1159/000132186. [DOI] [PubMed] [Google Scholar]
  3. Dean M., Park M., Le Beau M. M., Robins T. S., Diaz M. O., Rowley J. D., Blair D. G., Vande Woude G. F. The human met oncogene is related to the tyrosine kinase oncogenes. 1985 Nov 28-Dec 4Nature. 318(6044):385–388. doi: 10.1038/318385a0. [DOI] [PubMed] [Google Scholar]
  4. Eiberg H., Mohr J., Schmiegelow K., Nielsen L. S., Williamson R. Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet. 1985 Oct;28(4):265–271. doi: 10.1111/j.1399-0004.1985.tb00400.x. [DOI] [PubMed] [Google Scholar]
  5. Klinger K. W. Cystic fibrosis in the Ohio Amish: gene frequency and founder effect. Hum Genet. 1983;65(2):94–98. doi: 10.1007/BF00286641. [DOI] [PubMed] [Google Scholar]
  6. Knowlton R. G., Cohen-Haguenauer O., Van Cong N., Frézal J., Brown V. A., Barker D., Braman J. C., Schumm J. W., Tsui L. C., Buchwald M. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. 1985 Nov 28-Dec 4Nature. 318(6044):380–382. doi: 10.1038/318380a0. [DOI] [PubMed] [Google Scholar]
  7. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  9. Romeo G., Bianco M., Devoto M., Menozzi P., Mastella G., Giunta A. M., Micalizzi C., Antonelli M., Battistini A., Santamaria F. Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet. 1985 Mar;37(2):338–349. [PMC free article] [PubMed] [Google Scholar]
  10. Scambler P. J., Wainwright B. J., Watson E., Bates G., Bell G., Williamson R., Farrall M. Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res. 1986 Mar 11;14(5):1951–1956. doi: 10.1093/nar/14.5.1951. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  12. Steinberg A. G., Brown D. C. On the Incidence of Cystic Fibrosis of the Pancreas. Am J Hum Genet. 1960 Dec;12(4 Pt 1):416–424. [PMC free article] [PubMed] [Google Scholar]
  13. Tsui L. C., Buchwald M., Barker D., Braman J. C., Knowlton R., Schumm J. W., Eiberg H., Mohr J., Kennedy D., Plavsic N. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985 Nov 29;230(4729):1054–1057. doi: 10.1126/science.2997931. [DOI] [PubMed] [Google Scholar]
  14. Wainwright B. J., Scambler P. J., Schmidtke J., Watson E. A., Law H. Y., Farrall M., Cooke H. J., Eiberg H., Williamson R. Localization of cystic fibrosis locus to human chromosome 7cen-q22. 1985 Nov 28-Dec 4Nature. 318(6044):384–385. doi: 10.1038/318384a0. [DOI] [PubMed] [Google Scholar]
  15. Wright S. W., Morton N. E. Genetic studies on cystic fibrosis in Hawaii. Am J Hum Genet. 1968 Mar;20(2):157–169. [PMC free article] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES