Human Genetics

, Volume 83, Issue 2, pp 175–178 | Cite as

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations

  • X. Estivill
  • P. Gasparini
  • G. Novelli
  • T. Casals
  • V. Nunes
  • P. Gallano
  • A. Savoia
  • A. Ruzzo
  • B. Dallapiccola
  • P. F. Pignatti
Original Investigations

Summary

Three polymorphic DNA marker loci (INT1L1, D7S23 and D7S399) map to a chromosomal region that is very close to the cystic fibrosis (CF) locus in terms of genetic distance. These marker loci have been used to analyse the linkage disequilibrium in 137CF families from two South European countries (Italy and Spain). The markers can be analysed for differences in linkage disequilibrium more easily in these populations than in North Europeans, in whom the disequilibrium between the allelic systems defined by the probes and CF is much greater and on a “plateau” through the genetic region. The different levels of disequilibrium found in the studied populations suggest that D7S399 and D7S23 are both closer to CF than INT1L1, and provide additional information on the origins and homogeneity of the CF defect.

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Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • X. Estivill
    • 1
    • 2
  • P. Gasparini
    • 3
  • G. Novelli
    • 4
  • T. Casals
    • 1
  • V. Nunes
    • 1
  • P. Gallano
    • 1
  • A. Savoia
    • 3
  • A. Ruzzo
    • 5
  • B. Dallapiccola
    • 4
    • 5
  • P. F. Pignatti
    • 3
  1. 1.Unitat de Genètica MolecularFundació d'Investigació Santa Creu i Sant PauBarcelonaSpain
  2. 2.Molecular Genetics Department, St. Mary's HospitalMedical SchoolLondonUK
  3. 3.Istituto di Scienze Biologiche, Facoltà di Medicina e ChirurgiaUniversità di VeronaVeronaItaly
  4. 4.Cattedra di GeneticaUniversità degli Studi di UrbinoUrbinoItaly
  5. 5.Dipartimento di Sanità Pubblica e Biologia Cellulare IIUniversità di RomeRomeItaly

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