Autosomal Recessive Inhertance Cystic Fibrosis: A Literature Review
Abstract
Cystic fibrosis is a disorder caused by mutation in the Cystic Fibrosis Transmembrane Conductance Regulatory gene known as CFTR. This mutation occurs on chromosome 7. This disease is an autosomal recessive disorder .which mean that the disease is inherited when a child inherits a defective copy of the gene from both parents are carriers of the gene. A carrier is an individual was a defective copy and a normal copy of a gene and is unaffected themselves. The CFTR gene codes for the CFTR protein which is an important chloride channel. The purpose of the channels to is to pump ions in and out of the cell. The symptoms and associated complications of cystic fibrosis are caused by the dysfunctional CFTR protein channel .which is found throughout the gastrointestinal tract. Affected individuals have elevated sweat electrolyte levels, pancreatic insufficiency and lung infections. These signs are observed in most patients but not all. Since severity of the disease can range widely amongst individual.
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