Genetic Diseases

Question 1

Which glands does CF affect?

Answer 1

Epithelial glands

Question 2

Which receptor is deleted on chromosome 7 to cause CF?

Answer 2

CFTR

Question 3

Which ion is transported through the CFTR channel?

Answer 3

Cl-

Question 4

The deletion of the CFTR gene deletes the 2 nucleotide binding folds (NBFs) which do what in the cell?

Answer 4

bind ATP to provide energy for membrane transport

Question 5

What happens to the mucous in CF?

Answer 5

becomes viscous cuz of low H2O moving into the mucous

Question 6

What is the inheritance pattern of CF?

Answer 6

AR

Question 7

Which race is at greatest risk for CF?

Answer 7

White people.

Question 8

Which blood test can u do to screen babies for CF?

Answer 8

Immunoreactive trypsinogen (IRT)

Question 9

True or False: IRT screening is an excellent test because it is 100% accurate in screening for CF.

Answer 9

False. There are false negatives.

Question 10

What is the common respiratory problems in CF?

Answer 10

Frequent infections

Question 11

What is the average lifespan of CF?

Answer 11

40 years

Question 12

besides physical therapy and antibiotics, what drugs can u give to loosen secretions in CF?

Answer 12

Dornase

Question 13

Which molecular biology tests can u run for the carrier detection in CF?

Answer 13

PCR amplification and gel elecrtophoresis

Question 14

What aerosol prep can be done for gene therapy for CF?

Answer 14

Replacing the defective gene through recombinant vectors.

Question 15

What is the function of the a1-antitrypsin enzyme in the cell?

Answer 15

it’s a serine protease inhibitor (serpin)

Question 16

Which gene is a1-antitrypsin located on?

Answer 16

chromsome 14

Question 17

Which 2 types of cells make a1-antitrypsin?

Answer 17

hepatocytes

macrophages

Question 18

What is the major physiological fxn of a1-antitrypsin in the lung?

Answer 18

Protects it from elastase by using methionine 358 as bait

Question 19

What other “activity” can cause oxidation of met358 can causing the same Sx as a1-antitrypsin?

Answer 19

Smoking

Question 20

So what are the clinical manifestations of a1-antitrypsin deficiency?

Answer 20

Chronic severe pulmonary disease (emphysema) and liver disease

Question 21

Which phenotypes are causitive for a1-antitrypsin deficiency?

Answer 21

ZZ (rare)
Pi(SZ) (~35%)
SS (~60%)

Question 22

True or False: homozygous SS patients appear realtively normal.

Answer 22

True

Question 23

In Pi(z), there is point mutation to change GAG (Lys) to what?

Answer 23

AAG (Glu)

Question 24

In Pi(s), there is point mutation to change GAA (Val) to what?

Answer 24

GTA (Glu)

Question 25

There is also a pitssburgh variant of a1-antitrypsin where there is a missense point mutation substituting Arg for what?

Answer 25

Met

Question 26

Which gentotype (Piz, Pis, or Pittsburgh) leads to only ~15% of the a1-antitrypsin being secreted from the liver?

Answer 26

Pi(z)

Question 27

Which gentotype (Piz, Pis, or Pittsburgh) leads to decreased stability of the a1-antitrypsin protein?

Answer 27

Pi(s)

Question 28

Which gentotype (Piz, Pis, or Pittsburgh) leads to a lethal bleading disorder?

Answer 28

Pittsburgh variant | not surprised, steeler fans

Question 29

Which genotype does most europeans have for a1-antitrypsin?

Answer 29

MM

Question 30

At what age do you develop emphysema in ZZ genotype of a1-antitrypsin?

Answer 30

Middle age

Question 31

True or False: a1-antitrypsin deficiencies are much more severe in smokers

Answer 31

True.

Question 32

What is the genetic screening method for a1-antitrypsin deficiency?

Answer 32

ASO hybridization

Question 33

What is the main therapy for a1-antitrypsin deficiency?

Answer 33

Injections of purified inhibitor

Question 34

If the a1-antitrypsin is in the advanced stage, what is the main treatment?

Answer 34

Lung and liver transplantation

Question 35

What are the common bugs to infect the airways in CF patients?

Answer 35

H. influenza, S. aureus, ***P. aeruginosa, Aspergillus, C. albicans

Question 36

What is weird about the skin in CF patients?

Answer 36

It's super salty

Question 37

Which bug is a bad sign in CF patients?

Answer 37

Burkholderia cepacia

Question 38

This is a dilation of bronchi due to irreversible destruction of bronchial walls.

Answer 38

Bronchiectasis

Question 39

What is the main bug to cause chronic bronchiectasis?

Answer 39

P. aeruginosa

Question 40

What is the main problem with the cilia to cause bronchiectasias?

Answer 40

Ciliary dyskinesia

Question 41

This is an AR disorder of primary ciliary dyskinesia that has a triad of situs inversus, sinusitis, and bronciectasis.

Answer 41

Kartagener syndrome

Question 42

Where is the mutation to cause Kartageners syndrome?

Answer 42

loss of the dynein arm