Deletion Mutation/ Cystic Fibrosis

Deletion Mutation

Why Cystic Fibrosis Occurs

Located in Chromosome 7 is the CFTR gene ( cystic fibrosis transmembrane conductance regulator).

When changes in the CFTR gene occurs it affects the structure of the CFTR protein. The CFTR protein functions as a channel for the movement of chloride ions in and out of cells

When deletion occurs in the creation of the CFTR protein its structure is compromised. Resulting in this protein not being able to move the Chloride ions in and out of the cell

Treatments

Since a cure has not yet been discovered for this genetic disorder the main aim of CF treatment is to keep the lungs clear of mucus and free of infection. It's also important for someone with CF to eat well.

People with CF will work with a medical team, including doctors, nurses, nutritionists, physical therapists, social workers, and respiratory therapists. But many still get infections and have to go on antibiotics (to help kill bacteria) and spend time in hospital.

Causes To Why This Disease Occurs

Cystic fibrosis is a genetic disease that occurs when a child inherits two abnormal genes, one from each parent. 1 in 25 canadians carry this abnormal gene that causes Cystic Fibrosis (CF).

Most people don't know that they carry the gene for CF until they have a child who has the disease because carriers of the CF gene do not have the disease themselves.

When two parents who are carriers have a child, there is a 25% chance that the child will be born with CF; there is also a 50% chance that the child will be a carrier; and a 25% chance that the child will neither be a carrier nor have CF.

Symptoms

Cystic fibrosis is a disorder that produces a variety of symptoms including:

-Persistent coughing ( body produces to much mucus)

-Wheezing and shortness of breath

-Frequent chest infections, which may include pneumonia

-Bowel Problems, such as intestinal obstruction or frequent, oily stools

-Weight loss (failure to gain weight), even with an increased appetite

-Salty tasting sweat

-Infertility both sometimes in men and woman

Deletion Mutation/ Cystic Fibrosis

Cystic Fibrosis

Deletion Mutation

(frameshift)

What is Cystic Fibrosis?

Cystic Fibrosis is a hereditary disorder affecting the exocrine glands. Its a fatal genetic disease that causes the body to make thick, sticky mucus in not only the lungs but also the Digestive system.

A mutation is when their is a error in the process of replicating DNA. Sometimes a piece of DNA can be deleted or rather not copied during DNA replication.

This un-copied part can be as small as a single nucleotide or as much as an entire chromosome. The loss of this DNA during replication can lead to a genetic disease such as Cystic Fibrosis.

When Deletion occurs during replication this is called Frameshift Mutation, which changes the grouping of nucleotide bases into codons (change in amino acid sequence). Resulting in a shift of "reading frame" during protein translation.

Which causes the proteins to be completely non-functional.

Methods Of Testing

Testing a person for Cystic Fibrosis can be a very quick and painless procedure.

If a doctor suspects a patient has cystic fibrosis, a ‘sweat test’ may be administered. Which is just a test that measures the amount of salt content present in a persons sweat sample. (high level of NA means a person has CF) In addition, a test for the presence of enzymes in the intestine can be performed.

Other tests that can be performed are Genetic testing, prenatal and newborn screening

References

-Cystic fibrosis. (n.d.). Retrieved May 7, 2015, from http://ghr.nlm.nih.gov/condition/cystic-fibrosis

-Cystic Fibrosis. (n.d.). Retrieved May 7, 2015, from http://learn.genetics.utah.edu/content/disorders/singlegene/cf/

-Cystic fibrosis. (n.d.). Retrieved May 7, 2015, from http://en.wikipedia.org/wiki/Cystic_fibrosis

-Types of mutations. (n.d.). Retrieved May 7, 2015, from http://evolution.berkeley.edu/evolibrary/article/mutations_03