CFM 1: Non-Mendelian Genetics

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  1. Haploinsufficiency
    • When only one functional allele is present, but the one allele does not produce enough protein to bring about wild type phenotype
    • Ex: James' blood clot (haploinsufficiency of ATIII gene)
  2. Loss of heterozygosity
    • Heterozygous but phenotypically normal
    • Random mutation destroys the functional allele in a cell, and the mutated cell can cause a disease state
    • Example: retinoblastoma
  3. SNP
    • Single Nucleotide Polymorphism
    • single nucleotide is different from person to person
  4. STR
    • Short Tandem Repeat
    • Short repeated sequence of DNA; not stable long-term and are commonly mutated or expanded
  5. CNV
    • Copy Number Variant
    • An extra copy of a certain sequence of DNA
  6. VKORC1
    • Enzyme that activates reduced form of vitamin K, regenerating it and allowing it to carboxylate glutamate residues in some clotting proteins
    • Warfarin inhibits VKORC1
    • Variations in VKORC1 explain variations in patient sensitivities to VKORC1
    • Patients with A mutation in VKORC1 are more sensitive to warfarin and more likely to bleed out (INR>4)
  7. CYP2C9
    • Enzyme that hydroxylates warfarin to allow it to be expelled by kidneys
    • Variations in the gene for CYP2C9 can explain variations in patient sensitivities to warfarin
    • *2 and *3 mutations are more sensitive
  8. FTO
    Gene correlated with obesity
Card Set:
CFM 1: Non-Mendelian Genetics
2015-08-27 02:11:45
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