Abstract

MARTA, Ascurra et al. Detection of F508 Deletion in the CFTR Gene by PCR Directed Mutagenesis in Patients with Fibrocystic Disease. Pediatr. (Asunción) [online]. 2012, vol.39, n.1, pp.33-37. ISSN 1683-9803.

Cystic fibrosis is the most common autosomal recessive disease in the Caucasian population and is characterized by obstruction of passages, especially of the lungs, pancreas, and genital tract. It presents in 1 of every 2000 to 2500 live births, and 1 of every 20 to 25 newborns are carriers. The disease is caused by different mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The most common mutation in the CFTR gene is the deletion of three base pairs (CTT) known as F508.Our study was performed for the purpose of standardizing PCR-mediated site-directed mutagenesis (PSM) for detection of the F508 mutation in patients with cystic fibrosis. The method used was validated by DNA sequencing of exon 10 in all individuals. This genetic analysis detected 6 persons with F508 and I507 mutations. The method used in our laboratory could be useful for carrying out a population survey for carriers of the mutations for cystic fibrosis.

Keywords : Cystic fibrosis; F508; PSM; restriction site.

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