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17 Cards in this Set
- Front
- Back
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pleiotropy
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1 gene has >1 effect on an individual's phenotype
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imprinting
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differences in phenotype depend on whether the mutation is maternal or paternal
ex: ->Angelman's syndrome = mom ->Prader-willi = dad |
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loss of heterozygosity
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mutation in tumor suppressor gene requires deletion/muation of complementary allele in order for cancer to develop
**this is NOT true of oncogenes |
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mosaicism
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cells in the body have different genetic makeup
ex: random X inactivation in females |
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locus heterogeneity
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mutations at different loci can produce the same phenotype
ex: albinism |
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Hardy Weinberg crap
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disease prevalance: p2 + 2pq + q2
allele prevalence: p+q =1 2pq = heterozygote prevalance |
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XLR
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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 |
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XLD
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transmitted thru both parents
both offspring of affected mom can be affected ALL female offspring of affected dad are diseased ex: hypophosphatemic rickets |
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mitochondrial inheritance
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transmitted only from mom
all offpring of affected females can show signs of disease ex: Leber's hereditary optic neuropathy |
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examples of AD diseases
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PCKD, Marfan's, NF 1 and 2, tuberous sclerosis, VHL, Huntington's, familial polyposis, HS, achondroplasia, hyperlipidemia type IIa
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XLR diseases
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fragile X, Duchenne's, hemophilia A and B, Fabry's, G6PD, Hunter's, Lesch-Nyhan, Bruton's, Wiskott-Aldrich
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fragile X syndrome
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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) |
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trinucleotide repeat diseases
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HUNTINGton's, MYotonic dystrophy, FREIDreich's ataxia, fragile X syndrome
"tri hunting for my fried eggs [X]" |
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Edward's syndrome
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Ts18
severe MR, rocker bottom feet, micrognathia (jaw), congenital heart disease, clenched hands, prominent occiput death usually w/in 1 year |
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Patau's syndrome
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Ts13
severe MR, microphtlamia, microcephaly, cleft lip/palate, abnormal forebrain, polydactyly, congenital heart disease death usually w/in 1 year |
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cri-du-chat syndrome
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deletion of short arm of chrom 5
[46 XX or Xy, 5p-) microcephaly, severe MR, high pitched crying/mewing epicanthal folds, cardiac abnormalities |
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22q11 syndromes
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CATCH 22
Cleft palate Abnormal facies Thymic aplasia/T cell def Cardiac defects Hypocalcemia *DiGeorge or velocardiofacial syndrome |
