Human Genetics

, Volume 76, Issue 4, pp 337–343

Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci

  • J. Schmidtke
  • M. Krawczak
  • M. Schwartz
  • M. Alkan
  • M. Bonduelle
  • E. Bühler
  • M. Chemke
  • T. Darnedde
  • J. Domagk
  • W. Engel
  • D. Frey
  • K. Fryburg
  • D. Halley
  • J. Hundrieser
  • L. Ladanyi
  • I. Libaers
  • W. Lissens
  • M. Mächler
  • N. J. Malik
  • J. Morreau
  • V. Neubauer
  • B. Oostra
  • B. Pape
  • J. E. Poncin
  • A. Schinzel
  • P. Simon
  • F. K. Trefz
  • B. Tümmler
  • G. Vassart
  • R. Voss
Original Investigations

DOI: 10.1007/BF00272441

Cite this article as:
Schmidtke, J., Krawczak, M., Schwartz, M. et al. Hum Genet (1987) 76: 337. doi:10.1007/BF00272441

Summary

The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 families with at least one child affected by CF. The data were contributed by 11 laboratories from Europe and Israel. The maximum lod scores and recombination frequency estimates (\(\hat \theta \)) (and confidence limits of θ) were: 18.3 at \(\hat \theta \) =0.007(0.001−0.038) for CF vs. MET, 11.0 at \(\hat \theta \)(0.001–0.068) for CF vs. D7S8, and 5.7 at \(\hat \theta \) =0.0(0.0−0.064) for CF vs. D7S16. A gene order of CF-MET-D7S8 was best supported by the data, but its preference to the order D7S8-CF-MET is mainly based on one single family. There are significant allelic associations between CF, MET, D7S8 and D7S16; these allelic associations affect the risk of random individuals to be carriers of CF.

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • J. Schmidtke
    • 1
  • M. Krawczak
    • 1
  • M. Schwartz
    • 2
  • M. Alkan
    • 3
  • M. Bonduelle
    • 4
  • E. Bühler
    • 3
  • M. Chemke
    • 5
  • T. Darnedde
    • 6
  • J. Domagk
    • 8
  • W. Engel
    • 1
  • D. Frey
    • 9
  • K. Fryburg
    • 6
  • D. Halley
    • 10
  • J. Hundrieser
    • 7
  • L. Ladanyi
    • 1
  • I. Libaers
    • 4
  • W. Lissens
    • 4
  • M. Mächler
    • 9
  • N. J. Malik
    • 3
  • J. Morreau
    • 11
  • V. Neubauer
    • 7
  • B. Oostra
    • 11
  • B. Pape
    • 1
  • J. E. Poncin
    • 12
  • A. Schinzel
    • 9
  • P. Simon
    • 13
  • F. K. Trefz
    • 14
  • B. Tümmler
    • 6
  • G. Vassart
    • 13
  • R. Voss
    • 15
  1. 1.Institut für Humangenetik der UniversitätGöttingenFederal Republic of Germany
  2. 2.Section of Clinical GeneticsCopenhagenDenmark
  3. 3.Baster KinderspitalBaselSwitzerland
  4. 4.Institute of Medical GeneticsVrije UniversiteitBruxellesBelgium
  5. 5.Kaplan HospitalRehovotIsrael
  6. 6.Zentrum für Biochemie IIHannover 61Federal Republic of Germany
  7. 7.Institut für Humangenetik, Medizinische HochschuleHannover 61Federal Republic of Germany
  8. 8.Kinderklinik der UniversitätGöttingenFederal Republic of Germany
  9. 9.Institut für Medizinische Genetik der UniversitätZürichSwitzerland
  10. 10.Department of Clinical GeneticsErasmus UniversityRotterdamThe Netherlands
  11. 11.Department of Cell Biology and GeneticsErasmus UniversityRotterdamThe Netherlands
  12. 12.Department of Clinical ChemistryUniversity of LiegeLiegeBelgium
  13. 13.Institut de Recherche Interdisciplinaire en Biologie Humaine et NucléaireUniversité Libre de BruxellesBruxellesBelgium
  14. 14.Kinderklinik der UniversitätHeidelberg 1Federal Republic of Germany
  15. 15.Hadassah University HospitalJerusalemIsrael