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39 Cards in this Set
- Front
- Back
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Trait is expected in every generation
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AD
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Affected offspring has one affected parent
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AD
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Unaffected individuals do not transmit trait
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AD
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both males and females can transmit trait to both males and females
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AD
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Most affect individuals have normal parents
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AR
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1 in 4 siblings affected on average
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AR
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Affected individuals who marry normal individuals tend to have normal children
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AR
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Occurrence more likely with consanguinity
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AR
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Unaffected males do not transmit the trait
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X-R
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All daughters of affected males are heterozygous carriers
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X-R
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Female carriers transmit the affected allele to 50% of sons and 50% of daughters
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X-R
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No carriers
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X-D
AD |
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Females transmit the trait to males and females (50% of the offspring)
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X-D
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Males transmit the trait to only females (100%)
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X-D
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Nucleotide changes are significant if they occur in:
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Exons
5' flanking regions introns nonsynonymous sites |
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Oncogenes
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mutated proto-oncogene
gain of function dominant mode of expression |
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Tumor suppressor genes
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proteins that normally suppress tumor formation
recessive mode of expression |
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Oncogene classes
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protein kinases
signal transducers transcription factors |
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HNPCC
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Colorectal cancer
Dx: ~45 y/o No polyposis, have adenomas Proximal colon Mutated DNA mismatch repair genes (autosomal dominant - oncogene) |
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FAP
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APC gene (Tumor suppressor gene mutation)
100s of polyps 90% penetrance by age 35 CHRPE = benign FAP marker |
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Retinoblastoma
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RB1 gene (loss of function mutation - tumor suppression)
Inherited as a dominant trait, but expressed recessively Knudson 2-hit hypothesis Loss of heterozygosity (LOH) Strabismus - eyes don't line up Leukocoria - white glow in pupil |
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Roberstonian Translocation
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fusion of q arms of chromsomes
can be balanced or unbalanced unbalanced leads to trisomies |
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Chronic Myelogenous Leukemia (CML)
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Philadelphia chromosome
t(9;22)(q34;q11) FYI Balanced reciprocal translocation Resulting fusion gene is BCR-ABL (oncogene) |
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Burkitt Lymphoma
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Reciprocal translocation
B-lymphocyte tumor c-MYC becomes overexpressed and leads to uncontrolled mitosis African (endemic) and American (sporadic). African much worse (on a hotter spot) |
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Isochromosomes
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right chromosome but wrong arms (i.e., 2 p arms together, 2 q arms together
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No X chromsomes means
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no life
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Lyonization
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females have 1 X active and 1 X inactive (Barr body)
explains dosage compensation |
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Hydatidiform mole
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too much dad
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partial mole
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two sperm fertilize one egg.
69XXY or 69XXX maternal and paternal contribution fetal parts are present |
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complete mole
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two sperm fertilize an empty egg
46XX or 46XY No maternal contribution No fetal parts A lot of hCG |
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Clinical presentation:
vaginal bleeding abdominal pain excessive uterine enlargement Fetus smaller than gestational age Ovarian cysts |
Molar Pregnancy
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Ovarian teratoma
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only mom
chromsomes of an egg undergo mitosis to a 46XX cell No paternal contribution = no syncytiotrophoblast |
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Majority of spontaneous abortions
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trisomy 16
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Severe trisomy
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13
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Web neck
cubitus valgus streak ovaries |
Turner
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Why do you need to karyotype all Turner's
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rule out 45,X/46XY mosaics b/c if have Y chromosome, 95% will develop gonadoblastoma (remove gondal tissue)
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Uniparental disomy
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2 chromsomes from 1 parent
failure of chromosome rescue |
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Angelman syndrome
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microdeletion of maternal origin or kicking out the mom (leaving two dads)
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Prader Willi Syndrome
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microdeletion of paternal origin or kicking out the dad (leaving two moms)
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