The Importance of Genetic Study in Cystic Fibrosis
Journal Title: Archives of Pulmonology and Respiratory Care - Year 2017, Vol 3, Issue 3
Abstract
Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descendents. It affects about 85,000 people worldwide [1]. It is characterized by multiple and systemic clinical manifestations that primarily affect exocrine sweat glands, lungs and pancreas while presenting great variability in its severity [2]. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR gene), which encodes the cystic fibrosis transmembrane regulatory protein (CFTR), located on chromosome 7 (locus 7q31), leading to the absence or loss of CFTR function which, under normal conditions, acts as a chloride channel [3].
Authors and Affiliations
Mota Laís Ribeiro, Ferreira de Lima Renata Lúcia Leite, Souza Edna Lúcia
Keywords
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- EP ID EP341023
- DOI 10.17352/aprc.000029
- Views 68
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