Abstract

SANCHEZ, Karen et al. Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis. Invest. clín [online]. 2014, vol.55, n.1, pp.44-54. ISSN 0535-5133.

Mutations in the CFTR gene in Cystic Fibrosis (CF) patients have geographic differences and there is scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in these patients. We amplified and sequenced exons 7, 10, 11, 19, 20 and 21, which contain the most common CFTR mutations, from 105 Venezuelan patients in the National CF Program. Eleven different mutations were identified, four with frequencies greater than 1%: p.Phe508del (26,17%), p.Gly542X (3,33%), p.Arg334Trp (1,43%) and p.Arg1162X (1.43%). No mutations were found in 63.3% of patients. This report represents the largest group of Venezuelan CF patients ever examined and includes a wider mutation panel than has been previously studied in this population. Southern European CFTR mutations predominate in the Venezuelan population, but a high percentage of the causative alleles remain unidentified.

Keywords : cystic fibrosis; CFTR: cystic fibrosis transmembrane conductance regulator; Venezuela; p.Ser1235Arg; p.Glu1308X; p.Leu558Ser.

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