Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population

Maria Pia Russo, Giovanni Romeo, Marcella Devoto, Guido Barbujani, Giulio Cabrini, Annamaria Giunta, Elena D'Alcamo, Gianbattista Leoni, Federica Sangiuolo, Carmelina Magnani, Laura Cremonesi, Maurizio Ferrari

Research output: Contribution to journalArticlepeer-review

Abstract

Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVSI7bCA, located in intron 17b and a CA repeat (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a large sample of Italian cystic fibrosis (CF) and normal chromosomes. Linkage disequilibrium was evaluated between each marker and different CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all ΔF508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1G→A, which might have been originated more recently than ΔF508.

Original languageEnglish
Pages (from-to)23-27
Number of pages5
JournalHuman Mutation
Volume5
Issue number1
DOIs
Publication statusPublished - 1995

Keywords

  • Cystic fibrosis mutations
  • Linkage disequilibrium
  • Microsatellites

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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