from gene to clinic Flashcards
what is the significance of gene identification in mutations
accurate diagnosis and counselling.
starting point for deciphering its function.
identifies targets for therapy.
what 2 cancers do mutations in BRAC1 and BRAC2 predispose you to
ovarian and breast cancer.
what are the advantages of testing the BRAC mutations
Feel relieved knowing for certain whether or not they are at a higher risk for breast cancer.
Target specific treatment
Take preventative measures-diet exercise etc.
other family members can decide if they want to be tested.
what are the disadvantages for testing the BRAC mutations
Women may become worried, panicked, or stressed if they discover they have a higher than average risk for breast cancer.
Women who test positive for BRCA mutations are faced with the difficulty of telling family members (some of whom may also have the mutation).
Women who test negative for BRCA mutations may falsely believe they will never get breast cancer.
complications with health or life insurance.
preventative measures after confirmed BRACA mutations
Remove ovaries after family
preventative mastectomy
Is the pre symptomatic screening for breast cancer.
Yes- diagnosed as DNA level and you can do something about it..
what 4 methods of prenatal diagnosis are commonly used.
Amniocentesis (17 weeks)
Chorionic villus sampling (11 weeks)
Maternal peripheral blood (sex)
New non-invasive method based on NGS of mother’s blood (10 weeks).
what type of disorders are preimplantation diagnosis used for.
monogenic disorders
chromosomal abnormalities.
define non disclosure testing
you don’t’ test the parents whether they have the disorder but you test the risk of their child having the disorder without informing them or their risk.
what common hereditary condition causes obesity
leptin deficency.
what is the function of leptin
secreted by fat cells in order to tell the brain to reduce food intake, increase thermogeneiss and increase physical activity.
what cells produce leptin
fat cells.
define gene therapy
the use of genetic material- DNA or RNA- as a medicine.
introduction of functional genes, in the form of DNA, to replace mutated genes.
what is leber’s congenital amaurosis
Rare inherited eye disorder
Blindness at birth or in infancy
pathogenesis of leber’s congenital amaurosis
Blood vessels become thinner
No retina is left
what genes are mutated in leber’s congenital amaurosis
RPE65 mutations
is the eye a immune privileged area
yes
where are injections in the eye given
subretinal
what is the treatment for leber’s congenital amaurosis
Needle underneath the retina which is where it is needed
It is taken up by the RPE5, which is where it is needed.
what eye condition may hinder the treatment for lebers congenital amaurosis
Amblyopia- lazy eye with low visual acuity
define Cytochrome P450 oxidase
Multigene family of enzymes found predominantly in the liver
what is the function of Cytochrome P450 oxidase
metabolic elimination of most drugs
convert pro drugs into their active form (codeine to morphine by CYP2D6)
Which Cytochrome P450 oxidase is highly polymorphic and occasionally not present and functional
CYP2D6
what Cytochrome P450 oxidase enzyme is the rate limiting step in converting tamoxifen to its active metabolite endoxifen
CYP2D6
define personalised medicine
Information about a persons genotype or gene expression profile used to tailor medical care
