Screening for carriers of cystic fibrosis mutations in Ashkenazi volunteers

R. Zamostiano*, S. Nolman, J. Yahav, A. Schonberg, B. S. Kerem, E. Gazit

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

309 DNA samples obtained from healthy volunteers were tested for the cystic fibrosis mutations DF508 and W1282X. 14 carriers were identified, 7 of each mutation. Since the 2 mutations account for only 80% of CF mutations, the actual number of carriers is 1 in 18. In spite of the fact that this is only a pilot study, the results suggest that screening for CF carriers is feasible and that it identifies unambiguously those who carry the CF genes. When testing for CF carriers becomes available for the general public, it will undoubtedly contribute in reducing significantly the incidence of children born with the disease.

Original languageEnglish
Pages (from-to)202-205, 247
JournalHarefuah
Volume124
Issue number4
StatePublished - 15 Feb 1993

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