Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families

a collaborative study

Xavier P. Estivill, M. Farrall, R. Williamson, M. Ferrari, M. Seia, A. M. Giunta, G. Novelli, L. Potenza, B. Dallapicolla, G. Borgo, P. Gasparini, P. F. Pignatti, L. De Benedetti, E. Vitale, M. Devoto, G. Romeo

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

The locus D7S23 includes a CpG-enriched methylation-free island that maps midway between the markers J3.11 and met and is genetically very close to the mutation causing cystic fibrosis (CF). We have studied the linkage disequilibrium between four polymorphic markers from this locus (KM.19, CS.7, XV-2c, and PT-3) and the CF mutation (CF) in 127 Italian families. Strong linkage disequilibrium is found between KM.19, Cs.7, and CF, and weaker but significant disequilibrium is found between XV-2c, PT-3, and CF. The disequilibrium between markers and CF for the Italian population provides additional information on the origin and homogeneity of the CF defect. This panel of probes is sufficiently informative to permit accurate prenatal diagnosis of CF in most families with an affected person, and the disequilibrium also allows indirect carrier detection/exclusion in some cases.

Original languageEnglish
Pages (from-to)23-28
Number of pages6
JournalAmerican Journal of Human Genetics
Volume43
Issue number1
Publication statusPublished - 1988
Externally publishedYes

Fingerprint

Linkage Disequilibrium
Cystic Fibrosis
DNA
Mutation
Prenatal Diagnosis
Methylation
Population

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families : a collaborative study. / Estivill, Xavier P.; Farrall, M.; Williamson, R.; Ferrari, M.; Seia, M.; Giunta, A. M.; Novelli, G.; Potenza, L.; Dallapicolla, B.; Borgo, G.; Gasparini, P.; Pignatti, P. F.; De Benedetti, L.; Vitale, E.; Devoto, M.; Romeo, G.

In: American Journal of Human Genetics, Vol. 43, No. 1, 1988, p. 23-28.

Research output: Contribution to journalArticle

Estivill, XP, Farrall, M, Williamson, R, Ferrari, M, Seia, M, Giunta, AM, Novelli, G, Potenza, L, Dallapicolla, B, Borgo, G, Gasparini, P, Pignatti, PF, De Benedetti, L, Vitale, E, Devoto, M & Romeo, G 1988, 'Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study', American Journal of Human Genetics, vol. 43, no. 1, pp. 23-28.
Estivill, Xavier P. ; Farrall, M. ; Williamson, R. ; Ferrari, M. ; Seia, M. ; Giunta, A. M. ; Novelli, G. ; Potenza, L. ; Dallapicolla, B. ; Borgo, G. ; Gasparini, P. ; Pignatti, P. F. ; De Benedetti, L. ; Vitale, E. ; Devoto, M. ; Romeo, G. / Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families : a collaborative study. In: American Journal of Human Genetics. 1988 ; Vol. 43, No. 1. pp. 23-28.
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AU - Williamson, R.

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AU - Seia, M.

AU - Giunta, A. M.

AU - Novelli, G.

AU - Potenza, L.

AU - Dallapicolla, B.

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AU - Gasparini, P.

AU - Pignatti, P. F.

AU - De Benedetti, L.

AU - Vitale, E.

AU - Devoto, M.

AU - Romeo, G.

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