Ch 5 Starred Slides

Question 1

What are mutations with noncoding sequences?

Answer 1

• promoter or enhancer sequences or defective splicing of intervening sequences
• failure to form mRNA –> no translation
• TFs: MYC, JUN, p53

Question 2

What is anticipation?

Answer 2

conditions worsens/present earlier as it is passed down

Question 3

What are the most common bases for trinucleotide repeats?

Answer 3

C and G

Question 4

What type of mutation is CF? ABO? Tay Sachs?

Answer 4

a. deletion (of 3 nucleotides, so NOT frameshift)
b. deletion of 1; frameshift
c. deletion of 4; frameshift

Question 5

Where do new mutations tend to occur?

Answer 5

• germ cells of older fathers

Question 6

Cystic Fibrosis

Answer 6

• Mesoconium ileus, malnourished child with distended stomach, foul spelling stools, F to T
• chronic abscess formation due to recurrent superinfections
• 80-90% die of COPD
• GENE: CFTR
• CHROMOSOME: 7q31.2

Question 7

What bacteria often infect people with CF?

Answer 7

• Staphylococcus aureus
• Pseudomonas aeruginosa
• Haemophilus influenzae

Question 8

What is the most common genetic disease to affect caucasians?

Answer 8

CF

Question 9

What enzyme is lacking in PKU? What population is mainly affected?

Answer 9

• phenylalanine hydroxylase

- Scandinavian descent; not AA or Jewish

Question 10

What are examples of X linked dominant disorders?

Answer 10

• Fragile X Syndrome
• Vitamin D Resistant Rickets
• G6PD deficiency

Question 11

Pt. presents unconscious and weak after arriving in Ethiopia. Pt. has no significant PMH. What might be the problem?

Answer 11

they took antimalarial primaquine before their trip, and they have an underlining G6PD deficiency –> severe hemolytic anemia

Question 12

Marfan’s Syndrome

Answer 12

• FBN1 – fibrillin 1 – 15Q21.1
• -> loss of structural support in microfibril rich CT and excessive activation of TGF-beta signaling

*ectopia lentis

Question 13

Ehler’s Danlos Syndrome

Answer 13

• Classic (I/II): COL5A1, COL5A2
  - diaphragmatic hernia
• Vascular (IV): COL3A1
  - rupture of colon and large arteries
• Kyphoscoliosis (VI): Lysyl hydroxyls
  - rupture of cornea and retinal detachment

*Ky is the only AR one

Question 14

Pt. presents with extensive bleeding after a small cut. What may they be suffering from? What is a concern with treatment?

Answer 14

EDS –> stitches are hard because of lack of tissue support

Question 15

What is the most common form of Gm2 Gangliosidosis? Lysosomal storage disorder?

Answer 15

1. Tay-Sachs Disease

2. Gaucher Disease

Question 16

Who does the problem come from in Niemann-Pick Disease?

Answer 16

maternal chromosome

Question 17

When I say crumpled tissue paper, you say…

Answer 17

Gaucher Disease