publication . Article . 2014

Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis

Sánchez, Karen; Arcia, Orlando; Matute, Xiorama; Mindiola, Luz; Chaustre, Ismenia; Takiff, Howard;
Open Access English
  • Published: 01 Mar 2014
  • Publisher: Universidad del Zulia
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 Venezuela...
free text keywords: cystic fibrosis, cystic fibrosis transmembrane conductance regulator [CFTR], Venezuela, p.Ser1235Arg, p.Glu1308X, p.Leu558Ser, fibrosis quística, regulador de la conductancia transmembrana de la fibrosis quística [CFTR]
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