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Genetics > Lecture 9 > Flashcards

Lecture 9 Flashcards

1
Q

What is how genes affect a person’s response to drugs?

A

Pharmacogenomics

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2
Q

What is the role of inheritance in individual variation in drug metabolism?

A

Pharmacogenetics

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3
Q

Several classes of _____ enzymes are involved in medication metabolism.

A

Liver

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4
Q

What is a gene family that has ~50 enzymes that metabolize ~30 classes of drugs?

A

CYP family

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5
Q

What are the three categories of CYP family that a person can be?

A

Poor
Normal
Ultra-rapid metabolizers

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6
Q

N-acetyltransferase ______ some drugs, _____ others

A

Activates

deactivates

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7
Q

People who metabolize N-acetyltransferase quickly may not show a _____ to a drug

A

response

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8
Q

_____ metabolizes immune suppressant drugs for a number of disorders.

A

TPMT

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9
Q

What are the three groups of TPMT patients?

A

Deficient
Intermediate
Normal

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10
Q

Individuals who are ______ in TPMT will suffer toxicity at normal doses.

A

deficient

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11
Q

What does UDP-glucuronosyltransferase metabolize?What does it work on?

A

Irinotecan

Works on colorectal cancer

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12
Q

What drug prevents blood clots while increasing bleeding risk?

A

Warfarin

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13
Q

What affects warfarin metabolism gene-wise?

A

Cytochrome CYP2C9

VKORCI

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14
Q

What affects the metabolism of warfarin?

A

Age, sex, drug interactions, diet

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15
Q

What is the most extensively studied polymorphic drug metabolizing liver enzyme. Present in 30+ medications.

A

Cytochrome P50 2D6

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16
Q

What is an example of a drug that utilized Cytochrome P50 2D6

A

Codeine (1 out of every 10 people get no affect from codeine)

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17
Q

What are 2 limitations to pharmcogenomic tests?

A
  1. Difficult to interprut as many enzymes result from multiple different genes
  2. Doesn’t take into consideration other factors in the person’s life
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18
Q

What is a fasting blood cholesterol level over 240 mg/dL?

A

Hypercholesterolemia

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19
Q

How many people have familial hypercholesterolemia?

A

1/500

20
Q

In familial cholesterolemia what does your body lose the ability to do?

A

Metabolize LDLs and send HDLs back to the body due to absence or defective synthesis of LDLR proteins

21
Q

What is one sign of familial cholesterolemia?

A

Teninous xanthomata

22
Q

Which type of familial hypercholesterolemia is worse- homozygous or heterozygous?

A

Homozygous- appears younger with high TC levels

23
Q

What is considered high TC and LDL in a child?

A

TC >200

LDL >130

24
Q

What is considered high TC and LDL in an adult?

A

TC >240

LDL >160

25
Q

What is a multisystem disorder characterized by bilateral renal cysts?

A

Polycystic kidney disease

26
Q

What causes PKD?

A

Defects in PKD1 and PKD2 genes that code for polycystin 1 and 2 (caused by a triplet repeat)

27
Q

What is the most common potentially lethal single gene disorder in the U.S.?

A

PKD

28
Q

In mutation of PKD 1 or PKD2 are there larger kidneys with more cysts?

A

PKD1 (85% of mutations)

29
Q

If a person is homozygous for PKD what happens?

A

Spontaneous abortion

30
Q

_______ is very high in PKD, nearly all adults with mutation express some level of disease. High in PKD1

A

Penetrance

31
Q

In PKD, how does triplet expansion play a role?

A

When number of repeats in defective gene increases, gene is expressed to a higher degree.

32
Q

What are some treatments for PKD?

A

LIfestyle mods for HTN
Renal protective drugs
decrease protein consumption
avoid nephrotoxic drugs

33
Q

Does melanoma occur more in men or women?

A

Men

34
Q

What is FAMMM?

A

Familial Atypical Multiple Mole and Melanoma syndrome

35
Q

What is DNS?

A

Dysplastic nevus syndrome

36
Q

What is AMS?

A

Atypical mole syndrome

37
Q

There is a higher _____ with the familial form of malignant melanoma.

A

Penetrance

38
Q

_________ alters gene penetrance of FAMMM.

A

UV Light

39
Q

What chromosome region has been implicated in familial studies as a causative factor of familial malignant melanoma?

A

Chromosomal region 9p21

40
Q

There genes appear to be involved in what? CDKN2A, CDK4, p14ARF, MC1R

A

Nevi turning into melanoma

41
Q

In what stage of melanoma do you do a wide skin excision and lymph node biopsy with alpha interferon?

A

Stage III

42
Q

In what stage of malignant melanoma do you do a wide skin excision and optional sentinel lymph node biopsy?

A

Stage II

43
Q

In what stage of malignant melanoma do you do surgery to remove tumors and relieve symptoms. Possibly radiation and chemo.

A

Stage IV

44
Q

In what stage of malignant melanoma do you do surgery to remove lesion and unaffected margin?

A

Stage I

45
Q

These 4 populations (South African, Lebanese, Finish, French Canadian) all have a higher rate of what condition? And this is an example of what effect?

A

Familial Hypercholesterolemia

Example of Founder effect

Genetics (10 decks)

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