An analysis of 274 non-delta F508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the delta F508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation system (ARMS) technique. The molecular defects of the other chromosomes were screened for by denaturing gradient gel electrophoresis analysis of exons 3, 4, 7, 11, 12, 13, 14a, 17b, 19 and 20. Direct sequencing was carried out if necessary. This approach allowed us to identify 3 novel mutations, namely M348K, D614G and F693L.

Audrézet, M.P., Novelli, G., Mercier, B., Sangiuolo, F.C., Maceratesi, P., Férec, C., et al. (1993). Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. HUMAN HEREDITY, 43(5), 295-300.

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients

NOVELLI, GIUSEPPE;SANGIUOLO, FEDERICA CARLA;
1993

Abstract

An analysis of 274 non-delta F508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the delta F508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation system (ARMS) technique. The molecular defects of the other chromosomes were screened for by denaturing gradient gel electrophoresis analysis of exons 3, 4, 7, 11, 12, 13, 14a, 17b, 19 and 20. Direct sequencing was carried out if necessary. This approach allowed us to identify 3 novel mutations, namely M348K, D614G and F693L.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Cystic Fibrosis; Humans; Italy; Mutation
Audrézet, M.P., Novelli, G., Mercier, B., Sangiuolo, F.C., Maceratesi, P., Férec, C., et al. (1993). Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. HUMAN HEREDITY, 43(5), 295-300.
Audrézet, M; Novelli, G; Mercier, B; Sangiuolo, Fc; Maceratesi, P; Férec, C; Dallapiccola, B
Articolo su rivista
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/166539
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 19
  • ???jsp.display-item.citation.isi??? ND
social impact