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17 Cards in this Set

  • Front
  • Back
1 gene has >1 effect on an individual's phenotype
differences in phenotype depend on whether the mutation is maternal or paternal
->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
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
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
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
severe MR, rocker bottom feet, micrognathia (jaw), congenital heart disease, clenched hands, prominent occiput
death usually w/in 1 year
Patau's syndrome
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
Cleft palate
Abnormal facies
Thymic aplasia/T cell def
Cardiac defects

*DiGeorge or velocardiofacial syndrome