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These are the user uploaded subtitles that are being translated: 0 00:00:00,000 --> 00:00:03,540 PETER REDDIEN: So I'm going to go through five examples 1 00:00:03,540 --> 00:00:07,260 to give you a sense for this. 2 00:00:07,260 --> 00:00:08,550 Each one won't take that long. 3 00:00:08,550 --> 00:00:13,860 4 00:00:13,860 --> 00:00:24,468 OK, we're sticking with our rare autosomal dominant trait 5 00:00:24,468 --> 00:00:25,260 for these examples. 6 00:00:25,260 --> 00:00:28,110 7 00:00:28,110 --> 00:00:28,935 So first example. 8 00:00:28,935 --> 00:00:37,980 9 00:00:37,980 --> 00:00:40,980 So that's our pedigree information. 10 00:00:40,980 --> 00:00:42,870 And I'm going to say that we know something 11 00:00:42,870 --> 00:00:48,330 about the genotype of this affected individual one, 12 00:00:48,330 --> 00:00:50,490 because it's rare in the population, 13 00:00:50,490 --> 00:00:53,100 but also maybe we have other information 14 00:00:53,100 --> 00:00:55,350 that allows us to know this individual's heterozygous. 15 00:00:55,350 --> 00:00:58,740 So this individual's heterozygous. 16 00:00:58,740 --> 00:01:02,880 So this individual is plus over plus 17 00:01:02,880 --> 00:01:06,040 and we know this individual is D over plus. 18 00:01:06,040 --> 00:01:06,774 Yeah? 19 00:01:06,774 --> 00:01:09,247 STUDENT: Can you repeat what rare is? 20 00:01:09,247 --> 00:01:10,080 PETER REDDIEN: Rare? 21 00:01:10,080 --> 00:01:10,670 STUDENT: Yeah. 22 00:01:10,670 --> 00:01:12,420 PETER REDDIEN: I'm just saying that this-- 23 00:01:12,420 --> 00:01:16,460 in a population of individuals, this trait is rare. 24 00:01:16,460 --> 00:01:19,700 So no one that would come from outside the family 25 00:01:19,700 --> 00:01:22,390 that you would have identified would be carriers. 26 00:01:22,390 --> 00:01:24,140 It also means for a dominant, unless there 27 00:01:24,140 --> 00:01:28,010 was any kind of inbreeding, then most of the dominants 28 00:01:28,010 --> 00:01:30,470 are going to be heterozygous. 29 00:01:30,470 --> 00:01:38,840 30 00:01:38,840 --> 00:01:41,270 So now I'll give you some data for some SSRs. 31 00:01:41,270 --> 00:01:44,630 Let's say we do some genotyping and we get data for SSR1. 32 00:01:44,630 --> 00:01:47,630 33 00:01:47,630 --> 00:01:55,910 So let's say we have SSR1 and we have two alleles of SSR1 34 00:01:55,910 --> 00:02:02,990 in this individual, A and B. So we 35 00:02:02,990 --> 00:02:06,290 know that individual has alleles A and B of SSR1. 36 00:02:06,290 --> 00:02:18,020 This individual, for SSR1, we see C and E. 37 00:02:18,020 --> 00:02:19,370 So that's the genotype there. 38 00:02:19,370 --> 00:02:23,100 Now we can look at the genotype in the offspring. 39 00:02:23,100 --> 00:02:31,050 And we see it as A and E. OK, so our question here 40 00:02:31,050 --> 00:02:33,570 is, is this an informative meiosis? 41 00:02:33,570 --> 00:02:38,000 And I'm referring to the meiosis that this individual had 42 00:02:38,000 --> 00:02:41,150 that produced the gamete that gave rise 43 00:02:41,150 --> 00:02:45,580 to this female offspring. 44 00:02:45,580 --> 00:02:46,330 What do you think? 45 00:02:46,330 --> 00:02:47,090 Yeah? 46 00:02:47,090 --> 00:02:48,757 STUDENT: I don't think it's informative, 47 00:02:48,757 --> 00:02:51,090 because there are many different alleles expressed. 48 00:02:51,090 --> 00:02:53,257 PETER REDDIEN: So one suggestion is not informative, 49 00:02:53,257 --> 00:02:55,980 because there's many alleles of SSR1. 50 00:02:55,980 --> 00:02:57,977 Other thoughts? 51 00:02:57,977 --> 00:02:58,935 People agree with that? 52 00:02:58,935 --> 00:03:03,380 53 00:03:03,380 --> 00:03:04,112 Yeah? 54 00:03:04,112 --> 00:03:07,800 STUDENT: The gene could-- 55 00:03:07,800 --> 00:03:08,550 PETER REDDIEN: OK. 56 00:03:08,550 --> 00:03:09,690 STUDENT: SSR, sorry. 57 00:03:09,690 --> 00:03:10,530 PETER REDDIEN: OK. 58 00:03:10,530 --> 00:03:13,140 All right, so this brings me back to something that I 59 00:03:13,140 --> 00:03:17,590 want to make sure was clear. 60 00:03:17,590 --> 00:03:22,100 Gene X is not an SSR. 61 00:03:22,100 --> 00:03:26,060 SSRs, we don't know which SSR gene X is next to, 62 00:03:26,060 --> 00:03:29,000 but the SSRs are just markers. 63 00:03:29,000 --> 00:03:31,790 So we're looking at a particular SSR, 64 00:03:31,790 --> 00:03:34,220 we don't know if it's linked or unlinked. 65 00:03:34,220 --> 00:03:36,620 And we could look at many SSRs. 66 00:03:36,620 --> 00:03:39,680 But for simplicity, we'll focus on one SSR. 67 00:03:39,680 --> 00:03:44,947 So for this SSR, SSR1, and this meiosis, the question is, 68 00:03:44,947 --> 00:03:46,280 was this an informative meiosis? 69 00:03:46,280 --> 00:03:52,020 70 00:03:52,020 --> 00:03:53,308 Any other thoughts? 71 00:03:53,308 --> 00:03:55,350 Let's think about what I've written on the board. 72 00:03:55,350 --> 00:03:56,903 We have two alleles of marker genes 73 00:03:56,903 --> 00:03:58,320 and two alleles for the trait gene. 74 00:03:58,320 --> 00:04:00,362 We can determine which were transmitted together. 75 00:04:00,362 --> 00:04:01,845 Can we do that for this? 76 00:04:01,845 --> 00:04:04,160 77 00:04:04,160 --> 00:04:04,660 Yeah? 78 00:04:04,660 --> 00:04:08,100 STUDENT: Don't we have four alleles in the marker? 79 00:04:08,100 --> 00:04:09,850 PETER REDDIEN: The two alleles of a marker, 80 00:04:09,850 --> 00:04:11,980 I'm referring to the alleles that are involved 81 00:04:11,980 --> 00:04:14,620 in a particular meiosis. 82 00:04:14,620 --> 00:04:17,980 In this meiosis, you could have a maximum of two alleles 83 00:04:17,980 --> 00:04:19,720 under consideration. 84 00:04:19,720 --> 00:04:20,589 Yeah? 85 00:04:20,589 --> 00:04:37,960 STUDENT: [INAUDIBLE] 86 00:04:37,960 --> 00:04:38,980 PETER REDDIEN: Right. 87 00:04:38,980 --> 00:04:45,130 We know that this SSR allele was transmitted together 88 00:04:45,130 --> 00:04:47,770 in that gamete with this dominant allele. 89 00:04:47,770 --> 00:04:50,440 We know they were transmitted together. 90 00:04:50,440 --> 00:04:51,835 This is an informative meiosis. 91 00:04:51,835 --> 00:05:02,270 92 00:05:02,270 --> 00:05:04,390 This could contribute to our calculations 93 00:05:04,390 --> 00:05:06,140 of recombinant and non-recombinant gametes 94 00:05:06,140 --> 00:05:07,400 that we're going to build to. 95 00:05:07,400 --> 00:05:09,410 Right now we just want to determine 96 00:05:09,410 --> 00:05:12,530 if it can fulfill these criteria to be an informative meiosis. 97 00:05:12,530 --> 00:05:13,367 Yeah? 98 00:05:13,367 --> 00:05:21,615 STUDENT: [INAUDIBLE] 99 00:05:21,615 --> 00:05:22,490 PETER REDDIEN: Right. 100 00:05:22,490 --> 00:05:30,480 So you know that in any meiosis, there's four meiotic products, 101 00:05:30,480 --> 00:05:34,520 and then there's going to be one meiotic product from one 102 00:05:34,520 --> 00:05:37,760 meiosis that was in the-- that was 103 00:05:37,760 --> 00:05:40,920 involved in the fertilization to make this female offspring. 104 00:05:40,920 --> 00:05:46,790 And so we can only assess in this person that one gamete. 105 00:05:46,790 --> 00:05:52,400 So in that gamete, we know A and D went together, and not 106 00:05:52,400 --> 00:05:53,900 these alleles. 107 00:05:53,900 --> 00:05:56,660 Different gametes could have had B and plus going together, 108 00:05:56,660 --> 00:05:58,070 B and D going together. 109 00:05:58,070 --> 00:06:00,020 But with this individual, we only 110 00:06:00,020 --> 00:06:04,112 know about what happened in one meiosis to make one gamete. 111 00:06:04,112 --> 00:06:07,410 Does that makes sense to people? 112 00:06:07,410 --> 00:06:09,970 OK. 113 00:06:09,970 --> 00:06:12,110 OK. 114 00:06:12,110 --> 00:06:13,680 So I said I've got five of these, 115 00:06:13,680 --> 00:06:16,550 so hopefully it continues to get clearer 116 00:06:16,550 --> 00:06:19,900 as I go through other examples. 7967

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