Sunday, May 8, 2011

Chromosomal Research

to really get a picture in your head of what is going on
A defective CF gene on chromosome 7 is responsible for causing Cystic Fibrosis. In order for an individual to be affected with Cystic Fibrosis, they must have a mutation in the CF gene on each chromosome 7 [one abnormal copy must be inherit from each parent].Normally that gene would produce a which is a chloride channel protein called cystic fibrosis transmembrane regulator [CFTR], but when it is defective, it produces a contaminated CFTR protein. Usually, this contaminated protein is a result from the base deletion of 3 nucleotides [CTT]. Individuals with the contaminated CFTR protein lead to abnormal mucus in the lungs and pancreas  and defective/impaired protein digestion. This mucus then builds up and can cause serious permanent damage in organs.

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