Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations |
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| Authors: | X. Estivill P. Gasparini G. Novelli T. Casals V. Nunes P. Gallano A. Savoia A. Ruzzo B. Dallapiccola P. F. Pignatti |
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| Affiliation: | (1) Unitat de Genètica Molecular, Fundació d'Investigació Santa Creu i Sant Pau, Pare Claret, 167, E-080025 Barcelona, Spain;(2) Molecular Genetics Department, St. Mary's Hospital, Medical School, W2 1PG London, UK;(3) Istituto di Scienze Biologiche, Facoltà di Medicina e Chirurgia, Università di Verona, Verona, Italy;(4) Cattedra di Genetica, Università degli Studi di Urbino, Urbino, Italy;(5) Dipartimento di Sanità Pubblica e Biologia Cellulare II, Università di Rome, Rome, Italy |
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| Abstract: | 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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