Vet Gen Path Genetic

Front 1

1. Which of the following cause Mendelian disorders;
1. enzyme defect
2. mutation in mitochondrial genes
3. multiple gene mutation
4. alteration in function of protein
5. alteration in structure of protein
A. 1,2 B. 1,2,3 C. 1,4 D 1,5 E. 1,4,5

Back 1

(1:E)

Front 2

2. Which of the following cause the frameshift mutation;
1. Single-base deletion
2. Single-base insertion
3. Triple-base deletion
4. Four-base insertion
5. Six-base deletion
A. 1,2 B. 1,2,3 C. 1,2,4 D. 1,2,3,4 E. All of above

Back 2

(2:C)

Front 3

3. Which of the following statement about familial hypercholesterolemia is true; (P157,158)
A. LDL receptors bind to apoprotein B-100, C, and E.
B. LDL synthesis in the liver is increased.
C. Scavenger receptor-mediated transfer of LDL cholesterol into phagocytes is decreased.
D. Homozygotes have increased level of plasma LDL, but heterozygotes have almost normal level of plasma LDL.
E. Failure of LDL receptor synthesis in ER is the most common type of mutation.

Back 3

(3:B)

Front 4

4. Which of the following enzyme deficiency cause glycogen accumulation in lysosome;
A. glucose-6-phosphatse
B. glucokinase
C. glucocerebrosidase
D. α-glucosidase
E. arylsulfatase C

Back 4

(4:D)

Front 5

5. Which of the following defect in the lysosomal storage disease include a failure to attach the
mannose-6-phosphate marker; (P160)
A. Synthesis of a catalytically inactive protein that cross-reacts immunologically with the normal enzyme.
B. Defect in post-translational processing of the enzyme protein
C. Lack of an enzyme activator or protector protein
D. Lack of a substrate activator protein
E. Lack of a transport protein required for egress of the digested material from the lysosomes

Back 5

(5:B)

Front 6

6. Which of the following enzyme in macrophage can be used for the diagnosis of heterozygotes of Gaucher disease; 　
(P164)
A. chitotriosidase
B. glucocerebrosidase
C. α-glucosidase
D. xanthine oxidase
E. nitric oxide synthase

Back 6

(6:A, Chitotriosidase, an enzyme synthesized by macrophages, is markedly elevated in patients with Gaucher disease, resulting from mutations in the genes encoding glucocerebrosidase.)

Front 7

7. All of the following statements about Gaucher disease are true EXCEPT; (P163,164)
A. Autosomal recessive disorders resulting from mutations in the glucocerebrosidase
B. In most common type, storage is limited to the mononuclear phagocytes throughout the body without involving the brain.
C. Most commonly, there is pancytopenia or thrombocytopenia.
D. Glucocerebrosides are formed from the catabolism of glycolipids derived mainly from the cell membranes of senescent leukocytes and erythrocytes.
E. In microscope, Gaucher cells, distended phagocytic cells, commonly appear vacuolated.

Back 7

(7:E)