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16 Cards in this Set
- Front
- Back
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error in ____ leads to aneuploidiees
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segregation
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frequency of new mutations
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100 per embryo- 1 bad one in 10 embryos
1/1000 mutation specific gene 1/10^6 though f(gene specific) |
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when do mutations cause disease
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not autosomal recessive
x linked and dominant, yes hemopilia, duchenne's achondroplasia (drawf) |
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CCA pro to CCG pro
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synonymous substitution
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AAA lys to AGA arg
GCC ala to GAC asp |
missense but basic to basic
different but in part of protein that doesn't affect |
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what types/locations of mutations causes changes in phenotype?
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promoter mutation changes txn
cleavage/poly A site gets it degraded key splicing locations GT-AG gets NMD cryptic splice sites esp if out of frame early missense that affects function in/dels esp if frame shift |
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when do mRNA get sent to NMD
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nonsense-mediated decay targets proteins marked by ribosomes as having premature stop codon which is anywhere except the last 50nt of the last exon
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CAG to TAG
happens in |
nonsense mutation. gets NMD'd
neurofibromatosis. NF1 gene |
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FMR1 gene has to do with
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fragile X. has CGG's in 5' UTR
gets methylated and blocks txn |
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splice sit example
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HEXA gene for tay sachs
can also insert frame shift for this |
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different disease alleles in the same gene
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allelic heterogeneity
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what actually does ABO blood types
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the locus is for glycosyl transferase. different types add on different things
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LDLR common problem
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LDL receptor has big Alu repeat sections. These can do crossing over at the wrong area and indel the alleles. leads to hpercholesterolemia.
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rare variant
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allele present in less than 1% of population as opposed to polymorphism allele in more than 1%.
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high frequency of disease allele in recessive means
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heterozygote advantage
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if there are multiple organs affected
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pleiotropy
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