Association Studies and What They Can and Cannot Show · seed 1 · A4, ink-friendly. The answer key prints on its own page for grown-ups.

Hits mark neighbourhoods, not culprits

Science · Genetics & Evolution · ages 21-22
Name ______________________   Date ____________
  1. An association hit points to a single gene as the proven cause.

    Circle one:   True   False

  2. What does a genome wide association study scan for?

    • One gene that fully causes each disease
    • The exact birthday of each mutation
    • Positions where one version is more common in affected people
  3. Why do these studies need a far stricter significance threshold?

    • Computers demand round numbers
    • Journals prefer small p values aesthetically
    • A million tests make thousands look linked by luck
  4. You carry a variant tied to a trait. What does that mean?

    • You will certainly develop the trait
    • Your children are immune to it
    • Your risk shifts a little; most carriers stay unaffected
  5. Why does a hit blur across a region instead of one address?

    • Linkage: neighbours are inherited together as a block
    • Sequencers cannot read single positions
    • Alleles refuse to be counted
  6. What narrows an association block to the causal change?

    • Fine mapping plus lab tests on the gene
    • Repeating the same scan louder
    • Deleting the whole chromosome
  7. How do researchers move from a hit to a cause?

    • Assume the nearest gene is guilty
    • Fine map the block and test the gene in the lab
    • Scan even more people forever
  8. A company predicts your disease from one associated variant. Why refuse the reading?

    • Population patterns never verdict an individual outcome
    • DNA has nothing to do with disease
    • Only doctors may look at DNA
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Answer key

For grown-ups. Fold this page away before handing over the rest.

Hits mark neighbourhoods, not culprits W1-mt_IFFUFX3xrv-s1

  1. False · A hit tags a neighbourhood; the actor inside stays unknown.
  2. Positions where one version is more common in affected people · It compares allele counts between groups at each position.
  3. A million tests make thousands look linked by luck · Mass testing breeds false positives without a harsh bar.
  4. Your risk shifts a little; most carriers stay unaffected · Single variants nudge risk; they never deal fate.
  5. Linkage: neighbours are inherited together as a block · Linked variants ride along, so any of them could be causal.
  6. Fine mapping plus lab tests on the gene · Statistics nominate the block; experiments convict the actor.
  7. Fine map the block and test the gene in the lab · Correlation starts the hunt; lab work on the gene finishes it.
  8. Population patterns never verdict an individual outcome · The data describe groups, and most carriers never show the trait.
Worksheet · LightMySky