ch. 20 Genetic Testing and Treatment Flashcards
Why would an individual or couple seek genetic counseling?
family hx of disease, ensure that offspring will not inherit things, after 35- down syndrome, or carrier genotype is heterozygous to not have symptoms
What is a preconception test?
blood/urine work to see if there are things that make a woman more susceptible to complications in pregnancy (rH factor)
What is a prenatal test?
during pregnancy to see if something was passed on from carrier to fetus
what is the newborn test?
heal prick
what does the heal prick check for?
metabolism things, PKU, sickle cell anemia, HIV, hyperplasia, cystic fibrosis, checking enzymes, thyroid hormones
what is a diagnostic test?
confirm suspected abnormality
what is a predisposition test?
which genes predispose you to a certain disease
what diseases are predisposed?
breast cancer and BRCA genes
what is the predictive test?
when you know there is a family hx of something and you want to know if you are going to develop it as well
What is a pharmacogenomic test?
loos at several genes influencing drug metabolism
Where are drugs metabolized?
the liver
where are drugs excreted?
the kidneys
what drug antagonizes vitamin K?
warfarin
what enzyme helps to metabolize warfarin?
CYP2C9
what gene is normal, falls into normal dosage range for warfarin?
1/1
for warfarin, one allele not functioning properly, metabolism of warfarin decreases by 30%?
1/2
for warfarin, 90% decreased in metabolism of warfarin, need much lower dose?
1/3
what activates vitamin K for warfarin?
VKORCI
what letter signalizes that the test is normal for warfarin?
G
what letter signalizes that there is less VKORCI for warfarin?
A
What are some factors that influence how people metabolize a drug? (6)
albumin, liver/kidney function, age, gender/hormones, diet, environmental exposure
What is germline gene therapy?
alter DNA of a gamete or fertilized ovum; heritable
Can germline therapy alter DNA in humans or animals?
animals
What therapy alters only affected cells and is non heritable?
somatic gene therapy
t/f somatic gene therapy is done in humans?
true
What is In Vivo gene therapy?
inside of the body
what is important to remember about in vivo therapy?
make sure we are able to inject gene into right cells and that the gene will be able to pass membrane (hydrophobic)
what is the limitation of in vivo therapy?
cell can only handle small gene, specificity
What is ex vivo therapy?
outside of the body
t/f you can use a virus as a vector
true
what is important to remember about using a virus as a vector?
need to make sure virus will insert gene properly
what genes do we not want to affect?
oncogenes and tumor supressor genes
