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

M. P. Audrezet, G. Novelli, B. Mercier, F. Sangiuolo, P. Maceratesi, C. Ferec, B. Dallapiccola

Research output: Contribution to journalArticle

Abstract

An analysis of 274 non-ΔF508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the ΔF508 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.

Original languageEnglish
Pages (from-to)295-300
Number of pages6
JournalHuman Heredity
Volume43
Issue number5
Publication statusPublished - 1993

Keywords

  • Cystic fibrosis gene mutations
  • Denaturing gradient gel
  • Electrophoresis
  • Italian population

ASJC Scopus subject areas

  • Genetics(clinical)

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    Audrezet, M. P., Novelli, G., Mercier, B., Sangiuolo, F., Maceratesi, P., Ferec, C., & Dallapiccola, B. (1993). Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. Human Heredity, 43(5), 295-300.