A nurse is discussing the underlying genetic defect in cystic fibrosis (CF) with a client. Which of the following statements accurately describes the primary genetic abnormality in CF?
"CF is caused by an extra chromosome, leading to genetic imbalance."
"In CF, there is a duplication of the CFTR gene on chromosome 7."
"CF results from a mutation in the CFTR gene, which codes for a dysfunctional chloride channel."
"CF is characterized by the absence of the CFTR gene in affected individuals."
The Correct Answer is C
A) Incorrect. CF is not caused by an extra chromosome; it is a genetic disorder resulting from mutations in specific genes.
B) Incorrect. CF is not characterized by a duplication of the CFTR gene but rather by various mutations in this gene.
C) Correct. CF is primarily caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, leading to the production of dysfunctional chloride channels.
D) Incorrect. CF is not characterized by the absence of the CFTR gene; instead, it involves various mutations in this gene.
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Related Questions
Correct Answer is C
Explanation
A) Incorrect. CF is an autosomal recessive genetic disorder, meaning that both copies of the CFTR gene must carry a mutation for the condition to manifest.
B) Incorrect. CF is not caused by dominant genetic mutations.
C) Correct. CF results from inheriting two recessive genetic mutations, one from each parent, leading to defective CFTR protein function.
D) Incorrect. CF is primarily a genetic disorder with well-established genetic mutations associated with its development.
Correct Answer is D
Explanation
A) Incorrect. Genetic testing is used to confirm the presence of CF gene mutations but is not a measure of lung function.
B) Incorrect. The sweat chloride test is used for CF diagnosis and may not be performed regularly to monitor lung function.
C) Incorrect. Chest X-rays may be used to assess lung changes in individuals with CF, but they do not directly measure lung function.
D) Correct. Pulmonary function tests are commonly performed to assess lung function, monitor disease progression, and guide treatment in individuals with CF.
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