How is pcr used to detect cystic fibrosis?

How is pcr used to detect cystic fibrosis? Cystic fibrosis is caused by a 3 bp deletion that leads to a protein which lacks a critical phenylalanine amino acid in the protein. PCR primers have been developed that can distinguish a normal gene from a mutant gene.

How is cystic fibrosis detected? To diagnose cystic fibrosis, doctors usually perform blood tests. They may test sweat for high salt content, which can indicate cystic fibrosis. If the diagnosis is confirmed, doctors may evaluate the condition with a chest x-ray, chest or abdominal CT or MRI, abdominal ultrasound, or sinus CT.

What is the most common test method for cystic fibrosis? There are two tests commonly used to diagnose cystic fibrosis (CF): a sweat test, which measures the amount of chloride in sweat, and a genetic test, which detects chromosomal mutations associated with the disease. Because of the severity of CF and the need for proactive treatment, newborns are routinely screened.

How is PCR used to detect mutations? PCR generates an amplicon that is then analyzed by some other method to find possible variations within the amplicon. PCR based methods only detect mutations that have been previously identified by some other techniques if now sequencing step is added.

PCR (Polymerase Chain Reaction)

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