Genetics Final Ii

Front 1

what are genome wide association studies

Back 1

genome studies with very low p values that show increased risk for certain diseases (but small odds ratios, i.e. small increase in risk)
very good positive predictive value

Front 2

what does high AFP suggest?

Back 2

high alpha fetal protein suggests neural tube defect or omphaloceole

Front 3

what does low AFP suggest?

Back 3

downs syndrome

Front 4

what does nuchal translucency suggest?

Back 4

downs syndrome

Front 5

what are the two general causes of cancer

Back 5

loss of function of tumor suppressor or constituitive function of proto-oncogenes

Front 6

how many mutations does it usually take to get a cancerous cell?

Back 6

6

Front 7

what is the cause of burkitt's lymphoma?

Back 7

a monoclonal translocation between chromosome 8 and some other chromosome leading an oncogene to be next to an actively transcribed region (an Ig heavy chain)

Front 8

chronic myelogenous leukemia (and how is it treated?)

Back 8

caused by a translocation from chromosome 9 to chrom 22 which results in a philadelphia chromosome which codes for a new, constituitively active kinase causing proliferation
treated with GLEEVAC

Front 9

what is the cause of hereditary nonpolyposis colorectal cancer

Back 9

defect in mismatch DNA repair

Front 10

Multiple Endocrine Neoplasia 2
1. inheritance
2. cause
3. characteristics

Back 10

1. autosomal dominant
2. constituitively activated RET
3. multiple endocrine tumors

Front 11

what is the basic cause of familial retinoblastoma?

Back 11

autosomal dominant loss of a tumor suppressor gene

Front 12

familial adenomatous polyposis FAP

Back 12

FAP is caused by autosomal dominant loss of APC, a tumor suppressor gene
APC binds and halts B-catenin which is a proliferation protein

Front 13

what is the basic cause of fanconi anemia and xeroderma pigmentosa

Back 13

autosomal recessive loss of a tumor suppressor gene

Front 14

what is RET

Back 14

it is an oncogene
a transmembrane tyr kinase
mutations lead to constituitive activation

Front 15

what is RAS

Back 15

a protein that binds GTP, when it is bound to GTP and P-lated it promotes proliferation

Front 16

what is the cause of tumors in NF1?

Back 16

NF1 product normally turns of RAS, without this product RAS is overactivated and cells proliferate

Front 17

What is the Rb protein

Back 17

the retinoblastoma protein is a gatekeeper gene for a checkpoint

Front 18

what do gatekeepers do?

Back 18

they DIRECTLY regulate cell growth by checkpoint activation and apoptosis

Front 19

what do caretakers do?

Back 19

they INDIRECTLY regulate cell growth by dna repair and maintaining genomic integrity

Front 20

Li Fraumeni

Back 20

autosomal dominant
caused by loss of p53

Front 21

what do the BRCA genes do?

Back 21

they are DNA repair proteins
they both repair DNA breaks

Front 22

fanconi anemia

Back 22

autosomal recessive
bone marrow failure, leukemia
multisystem malformations
one of the 13 disease causing mutations is BRCA2

Front 23

familial adenomatous polyposis FAP is caused by a defect in which type of gene?

Back 23

a gatekeeper

Front 24

hereditary nonpolyposis colon cancer is caused by a mutation in what type of gene?

Back 24

a caretaker

Front 25

which inborn errors in metabolism are dominant?

Back 25

ornithine transcarbamylase (OTC) and Hunter's
both are X linked

Front 26

what is the cause of PKU

Back 26

a deficiency in phenylalanine hydroxylase which converts Phe to Tyr

Front 27

Galactosemia- cause and consequence

Back 27

caused by deficiency of Gal-1-P uridyltransferase

E. Coli SEPSIS!
vomiting and diarrhea in 1st weeks of life, liver disease

Front 28

Urea Cycle enzyme deficiencies

Back 28

cause hyperammonemia which is toxic to CNS

Front 29

OTC deficiency consequences

Back 29

X linked
coma, cerebral edema
orotic acid increase
treated with low protein diet, arginine or citrulline to use alternative pathways for N removal

Front 30

What is Tay Sachs disease?

Back 30

a lipid storage disease
harmful levels of gangliosides accumulate in brain
common in the ashkenazi jew population
normal at birth but start to miss milestones and have blindness, seizures, death.

Front 31

medium chain FA deficiency

Back 31

hypoglycemia on fasting (you use all your glycogen because you get no energy from FA metabolism)

Front 32

Hemolytic Disease of the Newborn

Back 32

Rh- mother develops antibodies against Rh+ fetus, causes hemolysis of fetal RBCs

Front 33

Butyrylcholinesterase

Back 33

prolonged paralysis after administration of succinylcholine (a muscle relaxant) because they are slow metabolizers

Front 34

Malignant Hyperthermia

Back 34

in patients treated with halothane (an inhaled general anesthetic) they get fever, tachycardia, acidosis

Front 35

G6PDH deficiency

Back 35

increased susceptibility to oxidative stress

Front 36

which drugs do you need to be particularly careful with for pharmacogenetics?

Back 36

chemoterapeutics

Front 37

what is the significance of N-acetyl transferases?

Back 37

fast or slow NATs lead to greater or lesser risks for cancers

Front 38

Hemochromatosis cause and treatment

Back 38

too much iron uptake
trx: phlebotomy

Front 39

Treatment of Familial Hypercholesterolemia

Back 39

HMGCoA reductase inhibitors (this normally makes Cholesterol)

Front 40

Criglar Najjar Syndrome cause and trx

Back 40

pt can't conjugate bilirubin for excretion => brain injury, death

trx: liver transplant

Front 41

Duchenne Muscular Dystrophy Trx

Back 41

myoblast transfer

Front 42

Adenosine deaminase deficiency trx

Back 42

ADA deficiency leads to SCID
bone marrow ransplant

Front 43

Leber Congenital Amaurosis therapy

Back 43

adenovirus trx for gene therapy...SUCCESS!

Front 44

what does high nuchal translucency suggest?

Back 44

aneuploidy