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PETER REDDIEN: So I'm going to go through five examples
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to give you a sense for this.
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Each one won't take that long.
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OK, we're sticking with our rare autosomal dominant trait
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for these examples.
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So first example.
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So that's our pedigree information.
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And I'm going to say that we know something
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about the genotype of this affected individual one,
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because it's rare in the population,
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but also maybe we have other information
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that allows us to know this individual's heterozygous.
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So this individual's heterozygous.
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So this individual is plus over plus
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and we know this individual is D over plus.
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Yeah?
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STUDENT: Can you repeat what rare is?
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PETER REDDIEN: Rare?
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STUDENT: Yeah.
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PETER REDDIEN: I'm just saying that this--
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in a population of individuals, this trait is rare.
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So no one that would come from outside the family
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that you would have identified would be carriers.
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It also means for a dominant, unless there
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was any kind of inbreeding, then most of the dominants
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are going to be heterozygous.
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So now I'll give you some data for some SSRs.
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Let's say we do some genotyping and we get data for SSR1.
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So let's say we have SSR1 and we have two alleles of SSR1
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in this individual, A and B. So we
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know that individual has alleles A and B of SSR1.
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This individual, for SSR1, we see C and E.
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So that's the genotype there.
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Now we can look at the genotype in the offspring.
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And we see it as A and E. OK, so our question here
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is, is this an informative meiosis?
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And I'm referring to the meiosis that this individual had
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that produced the gamete that gave rise
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to this female offspring.
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What do you think?
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Yeah?
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STUDENT: I don't think it's informative,
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because there are many different alleles expressed.
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PETER REDDIEN: So one suggestion is not informative,
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because there's many alleles of SSR1.
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Other thoughts?
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People agree with that?
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Yeah?
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STUDENT: The gene could--
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PETER REDDIEN: OK.
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STUDENT: SSR, sorry.
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PETER REDDIEN: OK.
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All right, so this brings me back to something that I
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want to make sure was clear.
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Gene X is not an SSR.
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SSRs, we don't know which SSR gene X is next to,
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but the SSRs are just markers.
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So we're looking at a particular SSR,
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we don't know if it's linked or unlinked.
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And we could look at many SSRs.
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But for simplicity, we'll focus on one SSR.
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So for this SSR, SSR1, and this meiosis, the question is,
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was this an informative meiosis?
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Any other thoughts?
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Let's think about what I've written on the board.
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We have two alleles of marker genes
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and two alleles for the trait gene.
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We can determine which were transmitted together.
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Can we do that for this?
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Yeah?
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STUDENT: Don't we have four alleles in the marker?
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PETER REDDIEN: The two alleles of a marker,
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I'm referring to the alleles that are involved
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in a particular meiosis.
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In this meiosis, you could have a maximum of two alleles
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under consideration.
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Yeah?
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STUDENT: [INAUDIBLE]
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PETER REDDIEN: Right.
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We know that this SSR allele was transmitted together
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in that gamete with this dominant allele.
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We know they were transmitted together.
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This is an informative meiosis.
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This could contribute to our calculations
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of recombinant and non-recombinant gametes
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that we're going to build to.
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Right now we just want to determine
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if it can fulfill these criteria to be an informative meiosis.
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Yeah?
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STUDENT: [INAUDIBLE]
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PETER REDDIEN: Right.
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So you know that in any meiosis, there's four meiotic products,
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and then there's going to be one meiotic product from one
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meiosis that was in the-- that was
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involved in the fertilization to make this female offspring.
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And so we can only assess in this person that one gamete.
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So in that gamete, we know A and D went together, and not
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these alleles.
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Different gametes could have had B and plus going together,
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B and D going together.
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But with this individual, we only
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know about what happened in one meiosis to make one gamete.
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Does that makes sense to people?
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OK.
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OK.
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So I said I've got five of these,
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so hopefully it continues to get clearer
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as I go through other examples.
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