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MMLU-Pro / 6254 / A 30-year-old woman comes to the physician because of a 2-day history of…

Problem

Answer published by the source. Consult the official source to check your work against its answer.

question

A 30-year-old woman comes to the physician because of a 2-day history of abdominal pain. She has a history of recurrent upper respiratory tract infections, sinusitis, and pancreatitis. She has thick nasal secretions. She says that her sweat is salty and crystallizes on her skin. Her vital signs are within normal limits. Physical examination shows epigastric tenderness. Genetic testing for the 36 most common mutations shows a detectable mutation (G551D) in one allele of the CFTR gene. Which of the following best explains this patient's clinical phenotype?

category

health

options

  1. Both CFTR alleles must be mutated to produce symptoms
  2. Only one G551D allele is needed in CFTR
  3. The patient is a CFTR obligate carrier
  4. The patient's symptoms are coincidental and not related to the CFTR mutation
  5. The G551D mutation in CFTR does not cause symptoms
  6. The patient's CFTR mutation is unrelated to her clinical phenotype
  7. The second CFTR mutation was not detected by the testing obtained
  8. The patient's clinical phenotype is due to a mutation in a different gene
  9. The patient has a rare form of CFTR mutation that requires two alleles
  10. The CFTR mutation is associated with her clinical phenotype but not the cause

src

ori_mmlu-professional_medicine

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Source and history

upstream_id / Original problem ID
6254
task_id
80a2d91c-08ef-5cfd-9711-24fc44cb99d7
task_key
default--test--6254
task_revision_id
1
config / split
default / test

Official source

initial import