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Frequency of the Delta-F508 Mutation and Flanking Marker Haplotypes at the Cystic Fibrosis Locus from 167 Czech Families

  • M. MacekJr.
  • V. Vavrova
  • I. Boehm
  • M. Stuhrmann
  • A. Reis
  • M. Macek
  • R. Duspisova
  • E. Jelinkova
  • K. Sperling
  • M. Krawczak
  • J. Schmidtke
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 290)

Abstract

This study was undertaken in order to compare the predominantly Slavic Czech Cystic Fibrosis (CF) population of Bohemia and Moravia (Czech Republic of Czechoslovakia) with other Caucasian populations in Europe for the deltaF508 CFTR gene mutation (Kerem et al., 1989) and CF-linked marker loci MET, D7S23, D7S399 and D7S8. This geographical region was a crossroad of Central Europe, where in particular Slavic and German groups came into close contact. It was to be expected that deltaF508 and CF-linked haplotype frequencies would reflect the population history of this region.

Keywords

Cystic Fibrosis CFTR Gene Marker Haplotype Cystic Fibrosis Population Cystic Fibrosis Chromosome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • M. MacekJr.
    • 1
    • 2
  • V. Vavrova
    • 3
  • I. Boehm
    • 2
    • 6
  • M. Stuhrmann
    • 2
  • A. Reis
    • 2
  • M. Macek
    • 3
  • R. Duspisova
    • 5
  • E. Jelinkova
    • 5
  • K. Sperling
    • 2
  • M. Krawczak
    • 4
  • J. Schmidtke
    • 2
  1. 1.Department of Clinical Biochemistry, Faculty of MedicineCharles UniversityPragueCzechoslovakia
  2. 2.Institute of Human GeneticsFree University Berlin (West)Berlin 19Germany
  3. 3.Institute for Child Development Research, Pediatric FacultyCharles UniversityPragueCzechoslovakia
  4. 4.Institute of Human GeneticsGöttingen UniversityFederal Republic of Germany
  5. 5.Center of Medical Genetics, Pediatric FacultyCharles UniversityPragueCzechoslovakia
  6. 6.Genetic Laboratory of Dr. WaldenmaierMunichFederal Republic of Germany

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