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Respiratory > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

Which glands does CF affect?

A

Epithelial glands

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2
Q

Which receptor is deleted on chromosome 7 to cause CF?

A

CFTR

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3
Q

Which ion is transported through the CFTR channel?

A

Cl-

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4
Q

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

A

bind ATP to provide energy for membrane transport

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5
Q

What happens to the mucous in CF?

A

becomes viscous cuz of low H2O moving into the mucous

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6
Q

What is the inheritance pattern of CF?

A

AR

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7
Q

Which race is at greatest risk for CF?

A

White people.

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8
Q

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

A

Immunoreactive trypsinogen (IRT)

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9
Q

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

A

False. There are false negatives.

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10
Q

What is the common respiratory problems in CF?

A

Frequent infections

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11
Q

What is the average lifespan of CF?

A

40 years

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12
Q

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

A

Dornase

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13
Q

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

A

PCR amplification and gel elecrtophoresis

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14
Q

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

A

Replacing the defective gene through recombinant vectors.

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15
Q

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

A

it’s a serine protease inhibitor (serpin)

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16
Q

Which gene is a1-antitrypsin located on?

A

chromsome 14

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17
Q

Which 2 types of cells make a1-antitrypsin?

A

hepatocytes

macrophages

18
Q

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

A

Protects it from elastase by using methionine 358 as bait

19
Q

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

A

Smoking

20
Q

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

A

Chronic severe pulmonary disease (emphysema) and liver disease

21
Q

Which phenotypes are causitive for a1-antitrypsin deficiency?

A

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

22
Q

True or False: homozygous SS patients appear realtively normal.

A

True

23
Q

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

A

AAG (Glu)

24
Q

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

A

GTA (Glu)

25
Q

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

A

Met

26
Q

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

A

Pi(z)

27
Q

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

A

Pi(s)

28
Q

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

A

Pittsburgh variant

not surprised, steeler fans

29
Q

Which genotype does most europeans have for a1-antitrypsin?

A

MM

30
Q

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

A

Middle age

31
Q

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

A

True.

32
Q

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

A

ASO hybridization

33
Q

What is the main therapy for a1-antitrypsin deficiency?

A

Injections of purified inhibitor

34
Q

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

A

Lung and liver transplantation

35
Q

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

A

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

36
Q

What is weird about the skin in CF patients?

A

It’s super salty

37
Q

Which bug is a bad sign in CF patients?

A

Burkholderia cepacia

38
Q

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

A

Bronchiectasis

39
Q

What is the main bug to cause chronic bronchiectasis?

A

P. aeruginosa

40
Q

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

A

Ciliary dyskinesia

41
Q

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

A

Kartagener syndrome

42
Q

Where is the mutation to cause Kartageners syndrome?

A

loss of the dynein arm

Respiratory (9 decks)

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