Genetics Exam Iii

Front 1

HW assumptions

Back 1

2 alleles, random mating, large population, (no new mutations, migration, or natural selection)

Front 2

proto-oncogene

Back 2

genes that regulate cell cycle

Front 3

oncogene

Back 3

mutated proto0oncogene (most spontaneous)

Front 4

philadelphia chromosome

Back 4

9:22 translocation in ABL

Front 5

gatekeeper

Back 5

tumor suppressor gene involve cell cycle

Front 6

caretaker

Back 6

tumor suppressor gene DNA repair

Front 7

two-hit hypothesis

Back 7

sporadic less frequent

Front 8

BRCA1/2

Back 8

caretakers; 85% of hereditary breast cancer

Front 9

FAP

Back 9

colon cancer gene. 100% risk; 2/3 inherited

Front 10

Lynch syndrome/HNPCC

Back 10

colon cancer gene; 08% risk; fewer polyms than FAP

Front 11

factors to determine if prenatal screening is offered

Back 11

- frequency
- cost
- ease of test
- treament available?

Front 12

sensitivity

Back 12

ability to identify those w/ disease; TP/TP+FP

Front 13

specificity

Back 13

ability to identify those w/o disease; TN/TN+FP

Front 14

tests done on ashkenazi Jewish

Back 14

- Tay Sachs
- Cystic fibrosis
- Canavan disease
- Familial dysautonmia

Front 15

High AFP indicates...

Back 15

ONTD

Front 16

Quadruple screening tests for

Back 16

Down syndrome
trisomy 18
ONTD

Front 17

test conducted in 1st trimester

Back 17

blood and NT for Down syndrome and trisomy 18

Front 18

Ultrasounds detect...

Back 18

ONTDs and soft signs

Front 19

Chorionic Villus: What? when? risks?

Back 19

chromosome abnormalities;
10-12 weeks
1% miscarriage

Front 20

Early amniocentesis: What? when? risks?

Back 20

chromosome abnormalities;
11-14 weeks
1% miscarriage, club foot, pulmonary problems

Front 21

teratology

Back 21

environmentally-induced birth defects

Front 22

teratogen

Back 22

interferes with normal development

Front 23

all or none period

Back 23

0-15 days after conception; not susceptible to tetratogens

Front 24

organogenesis

Back 24

3-8 weeks

Front 25

When does the neural tube form?

Back 25

3-4 weeks

Front 26

additivity

Back 26

sum of individual effects

Front 27

antagonism

Back 27

counteract making effects less severe

Front 28

synergism

Back 28

conmbined effect significantly greater than sum

Front 29

thalidomide causes...

Back 29

limb reduction

Front 30

DES causes...

Back 30

internal reproductive anomalies

Front 31

When does the heart form?

Back 31

formed by 8 weeks

Front 32

hydantoin causes...

Back 32

facial/neck; growth and dev. delay (10%)

Front 33

valproate causes...

Back 33

(6-18%) dev delay;
spin a bifid a, heart, face, limb

Front 34

phinobarbital causes...

Back 34

10-20% birth defects

Front 35

carbamazepine causes...

Back 35

neural tube defects
face dev. delay

Front 36

which anticonvulsant is not associated with any anomalies?

Back 36

clonazepam

Front 37

MAOIs cause

Back 37

(antidepressant) decreased uterine flow

Front 38

lithium causes...

Back 38

casudac defect (ebstein's anomaly: low tricusp)

Front 39

alcohol causes...

Back 39

FAS: dec. growth; retardation; face, CNS defects

Front 40

cytomegalovirus (CMV) causes...

Back 40

hearing, eyes; heart; mental retardation

Front 41

hyperthermia in 1st trimester causes...

Back 41

neural tube defects

Front 42

Examples of recombinant DNA therapy

Back 42

Insulin
Erythropoietin
Thrombopoitin
GCSF

Front 43

Myozyme

Back 43

Treat Pompe patients

Front 44

Lysozymal enzymes used by humans (drugs)

Back 44

Fabrazyme
Cerezyme (gaucheries disease)

Front 45

Example of gene therapy (almost)

Back 45

X-linked SCID
Cardiac
OTC
Rpe65 (blindness)