ch. 20 Genetic Testing and Treatment

Question 1

Why would an individual or couple seek genetic counseling?

Answer 1

family hx of disease, ensure that offspring will not inherit things, after 35- down syndrome, or carrier genotype is heterozygous to not have symptoms

Question 2

What is a preconception test?

Answer 2

blood/urine work to see if there are things that make a woman more susceptible to complications in pregnancy (rH factor)

Question 3

What is a prenatal test?

Answer 3

during pregnancy to see if something was passed on from carrier to fetus

Question 4

what is the newborn test?

Answer 4

heal prick

Question 5

what does the heal prick check for?

Answer 5

metabolism things, PKU, sickle cell anemia, HIV, hyperplasia, cystic fibrosis, checking enzymes, thyroid hormones

Question 6

what is a diagnostic test?

Answer 6

confirm suspected abnormality

Question 7

what is a predisposition test?

Answer 7

which genes predispose you to a certain disease

Question 8

what diseases are predisposed?

Answer 8

breast cancer and BRCA genes

Question 9

what is the predictive test?

Answer 9

when you know there is a family hx of something and you want to know if you are going to develop it as well

Question 10

What is a pharmacogenomic test?

Answer 10

loos at several genes influencing drug metabolism

Question 11

Where are drugs metabolized?

Answer 11

the liver

Question 12

where are drugs excreted?

Answer 12

the kidneys

Question 13

what drug antagonizes vitamin K?

Answer 13

warfarin

Question 14

what enzyme helps to metabolize warfarin?

Answer 14

CYP2C9

Question 15

what gene is normal, falls into normal dosage range for warfarin?

Answer 15

1/1

Question 16

for warfarin, one allele not functioning properly, metabolism of warfarin decreases by 30%?

Answer 16

1/2

Question 17

for warfarin, 90% decreased in metabolism of warfarin, need much lower dose?

Answer 17

1/3

Question 18

what activates vitamin K for warfarin?

Answer 18

VKORCI

Question 19

what letter signalizes that the test is normal for warfarin?

Answer 19

G

Question 20

what letter signalizes that there is less VKORCI for warfarin?

Answer 20

A

Question 21

What are some factors that influence how people metabolize a drug? (6)

Answer 21

albumin, liver/kidney function, age, gender/hormones, diet, environmental exposure

Question 22

What is germline gene therapy?

Answer 22

alter DNA of a gamete or fertilized ovum; heritable

Question 23

Can germline therapy alter DNA in humans or animals?

Answer 23

animals

Question 24

What therapy alters only affected cells and is non heritable?

Answer 24

somatic gene therapy

Question 25

t/f somatic gene therapy is done in humans?

Answer 25

true

Question 26

What is In Vivo gene therapy?

Answer 26

inside of the body

Question 27

what is important to remember about in vivo therapy?

Answer 27

make sure we are able to inject gene into right cells and that the gene will be able to pass membrane (hydrophobic)

Question 28

what is the limitation of in vivo therapy?

Answer 28

cell can only handle small gene, specificity

Question 29

What is ex vivo therapy?

Answer 29

outside of the body

Question 30

t/f you can use a virus as a vector

Answer 30

true

Question 31

what is important to remember about using a virus as a vector?

Answer 31

need to make sure virus will insert gene properly

Question 32

what genes do we not want to affect?

Answer 32

oncogenes and tumor supressor genes