Biology of Disease

CHAPTER 16

1. b


2. c


3. Adrenoleukodystrophy VLCFAs

@-spectrin hereditary spherocytosis

CFTR chloride channel

Dystrophin BMD, DMD

EPB41 hereditary elliptocytosis

Hexoseaminidase A Tay-Sachs disease

Mitochondrial gene for tRNAleu MELAS

Niemann-Pick disease sphingomyelin

Refsum’s disease phytanic acid

Sarcoglycans LGMD

4. Myoglobin is an intracellular protein. However, the muscle myopathy
   associated with a number of mitochondrial diseases leads to its release
   from the damaged tissue and its subsequent loss in the urine.


5. (a) B

(b) A

6. The excessive destruction of misshapen erythrocytes releases bilirubin
   in quantities that exceeds the livers conjugating capacity (Chapter
   11 ). The bilirubin, a bile pigment, enters the gall bladder in high
   concentrations and precipitates to form gallstones.

CHAPTER 17

1. 
   

   b

   
   


2. 
   

   e

   
   


3. 
   

   b

   
   


4. 
   

   Carcinoma epithelia
   Metastasis secondary tumors
   Oncogene E2F3
   Tumor suppressor gene TP53
   Breast cancer EMSY
   Li-Fraumeni syndrome CHK2
   Tyrosine kinase ABL-ACR
   FAB myeloblastic leukemias
   Ultraviolet light xeroderma pigmentosum
   Epstein-Barr virus Hodgkin’s lymphoma

   
   


5. 
   

   (a) F

   
   

(b) T

(c) F

(d) T

(e) F

(f) T

(g) F

(h) F

(i) F

(j) F

CHAPTER 17

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