Chapter 10:

Question 1

Which class of CFTR mutation results in no protein production?

a. Class I
b. Class II
c. Class III
c. Class IV
d. Class V
e. Class VI

Answer 1

A

Question 2

Which among the classes of CFTR mutations exhibit nonsense, frameshift and canonical splice as the type of mutation?

a. Class I
b. Class II
c. Class III
c. Class IV
d. Class V
e. Class VI

Answer 2

A

Question 3

Which among the classes of CFTR mutations exhibit splicing defect and missense as the type of mutation?

a. Class I
b. Class II
c. Class III
c. Class IV
d. Class V
e. Class VI

Answer 3

D

Question 4

Diagnosis for cystic fibrosis include of the following?

a. one or more characteristic phenotypic features and an increased sweat chloride concentration
b. a history of cystic fibrosis in sibling, parent, or child and a decreased swear chloride concentration
c. positive newborn screening result and sweat chloride concentration in the low range and identification of two disease-causing CFTR mutation
d. a sweat chloride concentration in the intermediate range and demonstration of abnormal epithelial nasal ion transport

Answer 4

A

Question 5

Which of the following is identified as an infant risk factor that is associated with sudden infant death syndrome?

a. young maternal age
b. short intergestational intervals
c. product of multiple birth
d. late or no prenatal care

Answer 5

C

Question 6

In the postmortem abnormalities detected in cases of sudden unexpected infant death (SUID), fatty acid oxidation disorders is a product of the following mutations, except:

a. MCAD
b. LCHAD
c. SCHAD
d. MTCYB

Answer 6

D