QuestionSBA
QuestionChoice
This genetic mutation means patients are likely to have a myeloproliferative neoplasm, not COPD
10006147
b
JAK2
QuestionChoice
Alpha 1 anti trypsin deficiency is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin. Alpha-1 antitrypsin is an enzyme inhibitor and protects tissues from enzymes of inflammatory cells such as neutrophil elastase. If it is not present, then neutrophil elastase can breakdown the lung tissue.
10006146
a
Alpha 1 anti trypsin deficiency
QuestionChoice
This is one of the mutations that can lead to maple syrup urine disease, a rare autosomal recessive metabolic disorder that doesn't cause COPD
10006149
d
BCKDHA
QuestionChoice
This is a mutation that causes autosomal dominant polycystic kidney disease type 1, not COPD
10006150
e
PKD1
QuestionChoice
This genetic mutation puts patients at an increased risk of developing breast cancer, not COPD
10006148
c
BRCA1
Concept
Chapter
2693
3800
Chronic Obstructive Pulmonary Disease (COPD)
Topic
162
General practice
13776
Which of the following genetic mutations predisposes a patient to developing Chronic obstructive pulmonary disease (COPD)?
a