Pancreatic function and gene deletion F508 in cystic fibrosis

G. Borgo, G. Mastella, P. Gasparini, A. Zorzanello, R. Doro, P. F. Pignatti

Research output: Contribution to journalArticle

Abstract

In view of the possible relation between pancreatic function and cystic fibrosis (CF) gene mutations, a detailed study on Italian patients was performed. Seventy pancreatic insufficient and 48 pancreatic sufficient patients were included after very accurate characterisation of their pancreatic and digestive function, all performed in the same CF centre. The CF gene deletion F508 was tested to define the patients' genotypes. The results confirm that the mutation correlates with pancreatic insufficiency, and is recessive to other, as yet unreported, mutant alleles that determine pancreatic sufficiency. An indication that duodenal bicarbonate output is more severely reduced in the presence of deletion F508 is also presented. The data are discussed in relation to a hypothesis on the primary effects of CF gene deletion F508.

Original languageEnglish
Pages (from-to)665-669
Number of pages5
JournalJournal of Medical Genetics
Volume27
Issue number11
Publication statusPublished - 1990

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Gene Deletion
Cystic Fibrosis
Exocrine Pancreatic Insufficiency
Mutation
Bicarbonates
Alleles
Genotype
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Borgo, G., Mastella, G., Gasparini, P., Zorzanello, A., Doro, R., & Pignatti, P. F. (1990). Pancreatic function and gene deletion F508 in cystic fibrosis. Journal of Medical Genetics, 27(11), 665-669.

Pancreatic function and gene deletion F508 in cystic fibrosis. / Borgo, G.; Mastella, G.; Gasparini, P.; Zorzanello, A.; Doro, R.; Pignatti, P. F.

In: Journal of Medical Genetics, Vol. 27, No. 11, 1990, p. 665-669.

Research output: Contribution to journalArticle

Borgo, G, Mastella, G, Gasparini, P, Zorzanello, A, Doro, R & Pignatti, PF 1990, 'Pancreatic function and gene deletion F508 in cystic fibrosis', Journal of Medical Genetics, vol. 27, no. 11, pp. 665-669.
Borgo G, Mastella G, Gasparini P, Zorzanello A, Doro R, Pignatti PF. Pancreatic function and gene deletion F508 in cystic fibrosis. Journal of Medical Genetics. 1990;27(11):665-669.
Borgo, G. ; Mastella, G. ; Gasparini, P. ; Zorzanello, A. ; Doro, R. ; Pignatti, P. F. / Pancreatic function and gene deletion F508 in cystic fibrosis. In: Journal of Medical Genetics. 1990 ; Vol. 27, No. 11. pp. 665-669.
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