Question

Genetics - cystic fibrosis questions

Describe your disease by stating its symptoms. Be a thorough as possible. Then describe the mode of inheritance of your disease.

What is the mutation that causes your disease? If a protein is mutated, state the name of the protein and the type of mutation.

Where can the mutated gene be found? Where does the normal protein function? How does its mutation lead to the symptoms you described?

(2 points) Describe how a technology could be used to confirm that a newborn child has this disease.

(2 points) Describe the process that could be used to “cure” this disease. If the technology that exists cannot cure the disease, explain why.

(2 points) Would the “cure” of the disease eradicate it from the population? Explain your answer.

Answer 1

Please ifnd the answers below:

Answer 1: Cystic fibrosis is a genetic disorder leading to pathogenesis in the lungs. In this disease, the chloride ion transport across the pulmonary epithelim is blocked leading to accumulation of chloride ions on one side of the cells. This disrupts further ionic transport across the epithelium,hence pathogenesis. Primary symptoms of the disease include persistent infections of the lungs, accumulation of mucus, short breaths, perspiration, salty-skin, tiredness and retarted growth. Severe symptoms might occur in case the genetic disposition of the disease is stronger, such as failure to generate pancreatic enzyme, infertility in males etc.

Answer 2: According to the genetic studies, it has now been shown that cystic fibrosis is inherited as an autosomal recessive disorder in humans. A mutation resulting in deletion of a single codon at position 507-508 of chromosome 7, hence promoting failure to generate a phenylalanine residue. This results in failure of incorporation of amino acid phenylalanine in the cystic fibrosis transmembrane conductance regulator protein, which disrupts its function as well as associated symptoms.

Answer 3: The mutated gene is located on the long arm (q-arm) of chromosome 7, hence autosomal in nature.

Answer 4: The normal CFTR protein is involved in regulation of transmembrane conductance of the pulmonary epithelium by regulating the movement of chloride ions. Since these anions are important in maintaining not only membrane potential, but also in various physiological functions, disruption in movement of these ions promotes pathology. Further, since chloride ion transport is also associated with sodium ion transport, a net decline in total sodium ions is also observed. Thus, the total salt content in the body is shifted towards the peripheral organs such as skin, givin it a salty-skin symptom.