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 journalArticle

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

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Linkage Disequilibrium
Cystic Fibrosis
Microsatellite Repeats
Chromosomes
Introns
Mutation
Population
Genes

Keywords

  • Cystic fibrosis mutations
  • Linkage disequilibrium
  • Microsatellites

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. / Russo, Maria Pia; Romeo, Giovanni; Devoto, Marcella; Barbujani, Guido; Cabrini, Giulio; Giunta, Annamaria; D'Alcamo, Elena; Leoni, Gianbattista; Sangiuolo, Federica; Magnani, Carmelina; Cremonesi, Laura; Ferrari, Maurizio.

In: Human Mutation, Vol. 5, No. 1, 1995, p. 23-27.

Research output: Contribution to journalArticle

Russo, MP, Romeo, G, Devoto, M, Barbujani, G, Cabrini, G, Giunta, A, D'Alcamo, E, Leoni, G, Sangiuolo, F, Magnani, C, Cremonesi, L & Ferrari, M 1995, 'Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population', Human Mutation, vol. 5, no. 1, pp. 23-27. https://doi.org/10.1002/humu.1380050103
Russo, Maria Pia ; Romeo, Giovanni ; Devoto, Marcella ; Barbujani, Guido ; Cabrini, Giulio ; Giunta, Annamaria ; D'Alcamo, Elena ; Leoni, Gianbattista ; Sangiuolo, Federica ; Magnani, Carmelina ; Cremonesi, Laura ; Ferrari, Maurizio. / Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. In: Human Mutation. 1995 ; Vol. 5, No. 1. pp. 23-27.
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AU - Cabrini, Giulio

AU - Giunta, Annamaria

AU - D'Alcamo, Elena

AU - Leoni, Gianbattista

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AB - 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.

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