Mnemonic for genetic inheritance patterns?

Discussion in 'Step I' started by osli, May 29, 2008.

  1. osli

    osli Senior Member
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    For some reason this is something that never seems to stick, and it shows up in lots of ways (UW and NBME both like to test your knowledge of type of inheritance of a certain disease and your knowledge of probabilities by combining them... give an obvious case presentation or actually name the disease, and then ask what the chance of an offspring having the disease or being a carrier or whatever, or showing you a pedigree and asking what disease that might represent).

    I hate it when I know the pathophys of a disease, presentation, treatments, etc. and can't remember whether it is AR or XR. :rolleyes:

    I know there are a few rules of thumb, like most enzyme deficiencies are AR, and I know a few of the AD diseases off the top of my head that have always stuck, but there are a lot that fall through the cracks and I never can seem to remember the inheritance pattern.

    Anyone have a mnemonic, catchy story, branding iron, or anything else that might help me retain these? I've tried rote memorization, and much like a lot of biochem pathways it's here one day and gone the next. Seems like this could easily be worth a couple of questions on the test, so its worth the time for me to pound it in somehow.
     
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  2. Cards21aceking

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    I think AD/AR is just memorization. I'm gonna stick with the FA mnemonic for X-LR:

    Be Wise Fool's GOLD Heeds False Hope
    -Bruton
    -Wiskott
    -Fragile X
    -G6pd
    -Ocular albinism
    -Lesch-Nyhan
    -Duchenne
    -Hemophilia A/B
    -Fabry
    -Hunter
     
  3. SaoTo

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    Here are some I came up with:

    AD diseases:
    • ADULT (APKD) MARtians are HUNTING for 2 CHOLESTEROL-powered SPHERical VeHicLes.
    • FAt(p) ADULT DWARVES with O.I. NeFer carry TUBERs because they watch TELevanGeliSts (telangiectasia).

    x-linked diseases
    :
    • FABRYlous WISKOTT, the YELLOW-EYED DUtCH BRUTe, was an eX-HUNTER that developed HEMOPHILIA and G6PD deficiency after being bitten by a CaGeD CHILD LESCH.
    • FABRYlous WISKOTT, the YELLOW-EYED (Ocular Albinism- or blue eyed) DUtCH (Duchene MD) BRUTe (Bruton's agamma), was an eX-HUNTER (fragile X and Hunter's) that developed HEMOPHILIA and G6PD deficiency after being bitten by a CaGeD CHILD (Chronic granulomatous dz of childhood) LESCH (Lesch-Nyhan).
    I believe most of everything left is AR
     
  4. Knicks

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    No offense but, I'd rather just flat out memorize a list of AD/AR/XLR diseases instead of those complicated mnemonics. Am I the only one who feels this way?

    But hey, if it works for you, more power to ya!
     
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  5. Lany

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    if you got no clue.. generally..

    AD - mostly "structural" defect diseases.
    AR - "enzyme" deficiencies.

    Memorize the rest:

    X-linked (R) - Be Wise Fool's GOLD Heeds False Hope

    Tri-N. repeat - Hungtington, Fragile X, Fred. ataxia, Myotonic Dystrophy, Prader-willi (few cases)

    X-linked D - Pyruvate dehydrogenase (used to be XR), Vit. D dep. rickets

    Mitochondrial - Leber, Leigh

    Multifactorial - diabetes, cholestrol, breast ca. etc.
     
  6. tetracycline

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    Thought I'd mention since it's an oddball category, Rett's disease (MR, ataxia, speech disorders, hand-wringing).
     
  7. Lany

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    another pearl..

    Adrenoleukodystrophy - XR

    DO NOT confuse this with Metachromatic leukodystrophy (lysosomal storage disease) which is AR. Maybe step1 can try to trick us...... :scared:.
     
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  8. osli

    osli Senior Member
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    Thanks guys. As odd as SaoTo's mnemonics are, I'll probably end up remembering the AD one. That, plust the XR list from FA should cover me well enough. :thumbup:
     
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  9. TSisk23

    TSisk23 ....
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    So when did the Pyruvate Dehydrogenase change it's mode of transmission from recessive to dominant?
     
  10. 2cr8tive

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    im wondering about the same thing too. i'll try to look it up today
     
  11. AllDay24

    AllDay24 Veteran Member
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    Fragile X is XL-D...for anyone who is studying from this
     
  12. StrongIslandDoc

    StrongIslandDoc Full of ideas.

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    PDHC is X-linked...
     
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  13. StrongIslandDoc

    StrongIslandDoc Full of ideas.

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    Yep, so is Rett Syndrome and Hypophosphatemic Ricketts
     
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