Lecture 9

Question 1

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

Answer 1

Pharmacogenomics

Question 2

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

Answer 2

Pharmacogenetics

Question 3

Several classes of _____ enzymes are involved in medication metabolism.

Answer 3

Liver

Question 4

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

Answer 4

CYP family

Question 5

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

Answer 5

Poor
Normal
Ultra-rapid metabolizers

Question 6

N-acetyltransferase ______ some drugs, _____ others

Answer 6

Activates

deactivates

Question 7

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

Answer 7

response

Question 8

_____ metabolizes immune suppressant drugs for a number of disorders.

Answer 8

TPMT

Question 9

What are the three groups of TPMT patients?

Answer 9

Deficient
Intermediate
Normal

Question 10

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

Answer 10

deficient

Question 11

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

Answer 11

Irinotecan

Works on colorectal cancer

Question 12

What drug prevents blood clots while increasing bleeding risk?

Answer 12

Warfarin

Question 13

What affects warfarin metabolism gene-wise?

Answer 13

Cytochrome CYP2C9

VKORCI

Question 14

What affects the metabolism of warfarin?

Answer 14

Age, sex, drug interactions, diet

Question 15

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

Answer 15

Cytochrome P50 2D6

Question 16

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

Answer 16

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

Question 17

What are 2 limitations to pharmcogenomic tests?

Answer 17

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

Question 18

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

Answer 18

Hypercholesterolemia

Question 19

How many people have familial hypercholesterolemia?

Answer 19

1/500

Question 20

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

Answer 20

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

Question 21

What is one sign of familial cholesterolemia?

Answer 21

Teninous xanthomata

Question 22

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

Answer 22

Homozygous- appears younger with high TC levels

Question 23

What is considered high TC and LDL in a child?

Answer 23

TC >200

LDL >130

Question 24

What is considered high TC and LDL in an adult?

Answer 24

TC >240

LDL >160

Question 25

What is a multisystem disorder characterized by bilateral renal cysts?

Answer 25

Polycystic kidney disease

Question 26

What causes PKD?

Answer 26

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

Question 27

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

Answer 27

PKD

Question 28

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

Answer 28

PKD1 (85% of mutations)

Question 29

If a person is homozygous for PKD what happens?

Answer 29

Spontaneous abortion

Question 30

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

Answer 30

Penetrance

Question 31

In PKD, how does triplet expansion play a role?

Answer 31

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

Question 32

What are some treatments for PKD?

Answer 32

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

Question 33

Does melanoma occur more in men or women?

Answer 33

Men

Question 34

What is FAMMM?

Answer 34

Familial Atypical Multiple Mole and Melanoma syndrome

Question 35

What is DNS?

Answer 35

Dysplastic nevus syndrome

Question 36

What is AMS?

Answer 36

Atypical mole syndrome

Question 37

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

Answer 37

Penetrance

Question 38

_________ alters gene penetrance of FAMMM.

Answer 38

UV Light

Question 39

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

Answer 39

Chromosomal region 9p21

Question 40

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

Answer 40

Nevi turning into melanoma

Question 41

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

Answer 41

Stage III

Question 42

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

Answer 42

Stage II

Question 43

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

Answer 43

Stage IV

Question 44

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

Answer 44

Stage I

Question 45

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?

Answer 45

Familial Hypercholesterolemia | Example of Founder effect