2026-05-25T12:51:36Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/aprc.000029 2017-10-16 PTZ.APRC:VOL3

The Importance of Genetic Study in Cystic Fibrosis Laís Ribeiro Mota Renata Lúcia Leite Ferreira de LimaEdna Lúcia Souza<p>Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descendents. It affects about 85,000&nbsp; people&nbsp; worldwide&nbsp; [1].&nbsp; It&nbsp; is&nbsp; characterized&nbsp; by&nbsp; multiple and&nbsp; systemic&nbsp; clinical&nbsp; manifestations&nbsp; that&nbsp; primarily&nbsp; affect exocrine&nbsp; sweat&nbsp; glands,&nbsp; lungs&nbsp; and&nbsp; pancreas&nbsp; while&nbsp; presenting great&nbsp; variability&nbsp; in&nbsp; its&nbsp; severity&nbsp; [2].&nbsp; It&nbsp; is&nbsp; caused&nbsp; by&nbsp; mutations in&nbsp; the cystic fibrosis&nbsp; transmembrane&nbsp; conductance&nbsp; regulator&nbsp; gene(CFTRgene), which encodes the cystic fibrosis transmembrane regulatory&nbsp; protein&nbsp; (CFTR),&nbsp; located&nbsp; on&nbsp; chromosome&nbsp; 7 (locus7q31), leading to the absence or loss of CFTR function which, under normal conditions, acts as a chloride channel [3].</p> Archives of Pulmonology and Respiratory Care - Peertechz Publications 2017-10-16 Letter to Editor https://doi.org/10.17352/aprc.000029 en Copyright © Laís Ribeiro Mota et al.