Cystic Fibrosis in Human - A Review

Order of Publishing in Issue: 
Volume :14
Issue :4
October, 2020 - December, 2020
Page No: 
R. K. Patel
Genetic Group of Gujarat and Diagnostic Centre, Mehsana, India- 384002

Cystic fibrosis is an inherited Autosomal recessive monogenic genetic disease in a various human population worldwide. The disease, characterized by the accumulation of thick and sticky mucus that can damage many body organs starting with respiratory system associated with chronic digestive system most severely affected leading to death in 90% of patients. Various mutations in the CFTR gene located on human chromosome 7 with specific location 7q31.2 are the cause of disease. The CFTR gene synthesizes a protein called the cystic fibrosis transmembrane conductance regulator that controls the movement of salt and water in and out of human body’s cells. Therefore, CFTR is an ion channel protein that transports chloride ions across the membranes of cells that line airways, glands, and the digestive tract. Chloride ions balance the water, making mucus thick or thin. The article discusses background, prevalence, etiology, complications, diagnosis, possible treatments and future development in clinical research of cystic fibrosis.

CFTR gene, Cystic fibrosis, Mutation, Nonsense mutation.
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