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17 Cards in this Set

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pleiotropy
1 gene has >1 effect on an individual's phenotype
imprinting
differences in phenotype depend on whether the mutation is maternal or paternal
ex:
->Angelman's syndrome = mom
->Prader-willi = dad
loss of heterozygosity
mutation in tumor suppressor gene requires deletion/muation of complementary allele in order for cancer to develop

**this is NOT true of oncogenes
mosaicism
cells in the body have different genetic makeup
ex: random X inactivation in females
locus heterogeneity
mutations at different loci can produce the same phenotype
ex: albinism
Hardy Weinberg crap
disease prevalance: p2 + 2pq + q2
allele prevalence: p+q =1
2pq = heterozygote prevalance
XLR
sons of heterozygous mom's have a 50% chance of being affected

*no male to male transmission

*more severe in males

heterozygous females may be affected
XLD
transmitted thru both parents
both offspring of affected mom can be affected
ALL female offspring of affected dad are diseased

ex: hypophosphatemic rickets
mitochondrial inheritance
transmitted only from mom
all offpring of affected females can show signs of disease

ex: Leber's hereditary optic neuropathy
examples of AD diseases
PCKD, Marfan's, NF 1 and 2, tuberous sclerosis, VHL, Huntington's, familial polyposis, HS, achondroplasia, hyperlipidemia type IIa
XLR diseases
fragile X, Duchenne's, hemophilia A and B, Fabry's, G6PD, Hunter's, Lesch-Nyhan, Bruton's, Wiskott-Aldrich
fragile X syndrome
XLR affecting FMR1 gene
2nd most common cause of genetic MR
enlarged testes, long face w/large jaw, large ears, autism
triplet repeat disorder (CGG)
trinucleotide repeat diseases
HUNTINGton's, MYotonic dystrophy, FREIDreich's ataxia, fragile X syndrome
"tri hunting for my fried eggs [X]"
Edward's syndrome
Ts18
severe MR, rocker bottom feet, micrognathia (jaw), congenital heart disease, clenched hands, prominent occiput
death usually w/in 1 year
Patau's syndrome
Ts13
severe MR, microphtlamia, microcephaly, cleft lip/palate, abnormal forebrain, polydactyly, congenital heart disease
death usually w/in 1 year
cri-du-chat syndrome
deletion of short arm of chrom 5
[46 XX or Xy, 5p-)
microcephaly, severe MR, high pitched crying/mewing
epicanthal folds, cardiac abnormalities
22q11 syndromes
CATCH 22
Cleft palate
Abnormal facies
Thymic aplasia/T cell def
Cardiac defects
Hypocalcemia

*DiGeorge or velocardiofacial syndrome