inherited silencing of MLH1 linked to single nucleotide variant within 5'UTR.txt

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Author:
rincrocci
ID:
209548
Filename:
inherited silencing of MLH1 linked to single nucleotide variant within 5'UTR.txt
Updated:
2013-03-26 00:35:55
Tags:
MLH1
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Description:
MLH1
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  1. Takeaway and broad scope
    • c.-27C > A variant shows that promoter varients within MLH1 and other genes may confer CANCER SUSCEPTIBILITY through their association with EPIGENETIC modifications
    • Genotypes and epigenotypes have INTERACTION in cancer-associated genes
  2. silencing of MLH1 in Cancer-affected family
    LINKED to Single Nucleotide Variant within the 5'UTR
  3. MLH1 epimutations
    • reported in individuals with personal history of cancer but NO FAMILIAL history
    • non-Mendelian inheritance observe
  4. Goal of study
    • Investigate MECHANISTIC basis of MLH1 epimutations
    • Define pattern of inheritance assoc. with these mutations
  5. c.-27C > A variant
    • This nucleotide variant induces the MLH1 mutation.
    • Located w/in 5'UTR
    • This may result in LOSS of binding of nuclear factor necessary for transcription and/or protection from chromatin modification.
  6. 3 haplotypes of MLH1 variants
    • Type I: haplotype methylated and transcriptionally silent
    • Type II: haplotype is UNmethylated and ACCESSIBLE to transcriptional activators
    • Type III: UNmethylated BUT transcriptionally REPRESSED by putative intermediary nuclear factor

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