Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population

M. Ravnik-Glavac, P. Gasparini, B. Peterlin, M. Strukelj, D. Glavac, N. Canki-Klain, P. F. Pignatti, R. Komel

Research output: Contribution to journalArticle

Abstract

The authors used polymerase chain reaction to analyse 56 Slovenian cystic fibrosis (CF) chromosomes for the presence of ΔF508 and eight other most frequent mutations located in exons 7, 11 and 20 (R347P, R334W, G551D, R553X, S549RA, S549RT, S549I and S1255X) of the CF gene. We also determined the frequency of haplotypes associated with CF for six linked RFLP markers (MetD/TaqI, MetH/TaqI, XV-2c/TaqI, KM-19/PstI, MP6d9/MspI and J3.11/MspI) in 27 Slovenian CF families. ΔF508 mutation was present in 55.4 percent of the CF chromosomes. No case of the other mutations were detected in the sample of tested CF chromosomes. A very high degree of association (0.88) has been found between DNA marker MetH and CF (as measured by the Yule's association coefficient) in our population. Using the RFLP markers XV-2c and KM-19, we found that 85% of ΔF508 mutated chromosomes have a single 1 2 (B) haplotype, and that this haplotype is present on only 15.4 percent of CF chromosomes without this deletion.

Original languageEnglish
Pages (from-to)85-88
Number of pages4
JournalAnnales de Genetique
Volume35
Issue number2
Publication statusPublished - 1992

Keywords

  • CF gene mutations
  • Cystic fibrosis
  • Linked RFLP markers
  • Slovenian population

ASJC Scopus subject areas

  • Genetics

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    Ravnik-Glavac, M., Gasparini, P., Peterlin, B., Strukelj, M., Glavac, D., Canki-Klain, N., Pignatti, P. F., & Komel, R. (1992). Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population. Annales de Genetique, 35(2), 85-88.