The Importance of Genetic Study in Cystic Fibrosis

Laís Ribeiro Mota, Renata Lúcia Leite Ferreira de Lima and Edna Lúcia Souza*

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(CFTRgene), which encodes the cystic fibrosis transmembrane regulatory  protein  (CFTR),  located  on  chromosome  7 (locus7q31), leading to the absence or loss of CFTR function which, under normal conditions, acts as a chloride channel [3].

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Published on: Oct 16, 2017 Pages: 72-73

Full Text PDF Full Text HTML DOI: 10.17352/aprc.000029
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