Genetics – cystic fibrosis que

Genetics – cystic fibrosis questions

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

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

Where can the mutated gene be found? Where does the normalprotein function? How does its mutation lead to the symptoms youdescribed?

(2 points) Describe how a technology could be used to confirmthat 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 thedisease, explain why.

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


Please ifnd the answersbelow:

Answer 1: Cysticfibrosis is a genetic disorder leading to pathogenesis in thelungs. In this disease, the chloride ion transport across thepulmonary epithelim is blocked leading to accumulation of chlorideions on one side of the cells. This disrupts further ionictransport across the epithelium,hence pathogenesis. Primarysymptoms 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 casethe genetic disposition of the disease is stronger, such as failureto generate pancreatic enzyme, infertility in males etc.

Answer 2: Accordingto the genetic studies, it has now been shown that cystic fibrosisis inherited as an autosomal recessive disorder in humans. Amutation resulting in deletion of a single codon at position507-508 of chromosome 7, hence promoting failure to generate aphenylalanine residue. This results in failure of incorporation ofamino acid phenylalanine in the cystic fibrosis transmembraneconductance regulator protein, which disrupts its function as wellas associated symptoms.

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

Answer 4: Thenormal CFTR protein is involved in regulation of transmembraneconductance of the pulmonary epithelium by regulating the movementof chloride ions. Since these anions are important in maintainingnot only membrane potential, but also in various physiologicalfunctions, disruption in movement of these ions promotes pathology.Further, since chloride ion transport is also associated withsodium ion transport, a net decline in total sodium ions is alsoobserved. Thus, the total salt content in the body is shiftedtowards the peripheral organs such as skin, givin it a salty-skinsymptom.

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