First report of cystic fibrosis mutations in Libyan cystic fibrosis patients.

BACKGROUND

There are few data on the molecular basis of Cystic Fibrosis (CF) in North Africa, probably due to under-diagnosis.

AIM: This is the first study of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Libyan population.

SUBJECTS AND

METHODS

This study analysed the complete coding region and flanking intronic sequences of the CFTR gene in 10 unrelated Libyan CF patients.

RESULTS

This study identified four mutations (F508del, c.1670delC, N1303K and E1104X), with a high frequency of the latter.

CONCLUSION

Identification of CF mutations facilitates molecular investigation of cystic fibrosis in the Libyan population and helps to provide effective genetic counselling among CF families.