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45 Cards in this Set
- Front
- Back
HW assumptions
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2 alleles, random mating, large population, (no new mutations, migration, or natural selection)
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proto-oncogene
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genes that regulate cell cycle
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oncogene
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mutated proto0oncogene (most spontaneous)
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philadelphia chromosome
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9:22 translocation in ABL
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gatekeeper
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tumor suppressor gene involve cell cycle
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caretaker
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tumor suppressor gene DNA repair
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two-hit hypothesis
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sporadic less frequent
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BRCA1/2
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caretakers; 85% of hereditary breast cancer
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FAP
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colon cancer gene. 100% risk; 2/3 inherited
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Lynch syndrome/HNPCC
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colon cancer gene; 08% risk; fewer polyms than FAP
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factors to determine if prenatal screening is offered
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- frequency
- cost - ease of test - treament available? |
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sensitivity
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ability to identify those w/ disease; TP/TP+FP
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specificity
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ability to identify those w/o disease; TN/TN+FP
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tests done on ashkenazi Jewish
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- Tay Sachs
- Cystic fibrosis - Canavan disease - Familial dysautonmia |
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High AFP indicates...
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ONTD
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Quadruple screening tests for
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Down syndrome
trisomy 18 ONTD |
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test conducted in 1st trimester
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blood and NT for Down syndrome and trisomy 18
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Ultrasounds detect...
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ONTDs and soft signs
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Chorionic Villus: What? when? risks?
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chromosome abnormalities;
10-12 weeks 1% miscarriage |
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Early amniocentesis: What? when? risks?
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chromosome abnormalities;
11-14 weeks 1% miscarriage, club foot, pulmonary problems |
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teratology
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environmentally-induced birth defects
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teratogen
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interferes with normal development
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all or none period
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0-15 days after conception; not susceptible to tetratogens
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organogenesis
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3-8 weeks
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When does the neural tube form?
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3-4 weeks
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additivity
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sum of individual effects
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antagonism
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counteract making effects less severe
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synergism
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conmbined effect significantly greater than sum
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thalidomide causes...
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limb reduction
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DES causes...
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internal reproductive anomalies
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When does the heart form?
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formed by 8 weeks
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hydantoin causes...
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facial/neck; growth and dev. delay (10%)
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valproate causes...
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(6-18%) dev delay;
spin a bifid a, heart, face, limb |
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phinobarbital causes...
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10-20% birth defects
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carbamazepine causes...
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neural tube defects
face dev. delay |
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which anticonvulsant is not associated with any anomalies?
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clonazepam
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MAOIs cause
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(antidepressant) decreased uterine flow
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lithium causes...
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casudac defect (ebstein's anomaly: low tricusp)
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alcohol causes...
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FAS: dec. growth; retardation; face, CNS defects
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cytomegalovirus (CMV) causes...
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hearing, eyes; heart; mental retardation
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hyperthermia in 1st trimester causes...
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neural tube defects
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Examples of recombinant DNA therapy
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Insulin
Erythropoietin Thrombopoitin GCSF |
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Myozyme
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Treat Pompe patients
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Lysozymal enzymes used by humans (drugs)
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Fabrazyme
Cerezyme (gaucheries disease) |
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Example of gene therapy (almost)
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X-linked SCID
Cardiac OTC Rpe65 (blindness) |