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Cystic fibrosis mutation I1234V in a Qatari lady
1Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Journal of Tropical Pediatrics
|March 13, 2003
Abstract:
We describe a late diagnosis of cystic fibrosis (CF) in a multiparous Qatari lady, in whom the main presenting symptoms were those of chronic lung disease. Genetic analysis showed that the patient has a homozygous mutation I1234V in the cystic fibrosis transmembrane conductance regulator gene. This suggests that this mutation has a variable expression of clinical severity and long survival.
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01:39Mutations
Overview
02:46Genome Copying Errors
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...