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Would you like to inspect the original subtitles? These are the user uploaded subtitles that are being translated: 0 00:00:00,000 --> 00:00:01,800 PETER REDDIEN: So let's dive in and look 1 00:00:01,800 --> 00:00:04,350 at an example pedigree. 2 00:00:04,350 --> 00:00:07,680 And I'm going to say that we're looking at a rare trait here. 3 00:00:07,680 --> 00:00:09,870 First thing we can do is try to determine 4 00:00:09,870 --> 00:00:14,100 whether we can decipher the mode of inheritance of this trait. 5 00:00:14,100 --> 00:00:17,370 And you can just walk yourself through each of these scenarios 6 00:00:17,370 --> 00:00:20,110 and see if they're consistent with these data. 7 00:00:20,110 --> 00:00:24,060 So let's say, could it be autosomal dominant? 8 00:00:24,060 --> 00:00:27,150 We couldn't explain this individual passing on the trait 9 00:00:27,150 --> 00:00:30,340 if it was autosomal dominant and not showing the trait. 10 00:00:30,340 --> 00:00:31,710 So no. 11 00:00:31,710 --> 00:00:34,090 Autosomal recessive? 12 00:00:34,090 --> 00:00:36,360 This data is not consistent with autosomal recessive 13 00:00:36,360 --> 00:00:39,240 because this individual, we're assuming, 14 00:00:39,240 --> 00:00:41,640 does not bring in an allele. 15 00:00:41,640 --> 00:00:45,150 So this individual could not have an affected offspring 16 00:00:45,150 --> 00:00:46,980 if it was autosomal recessive. 17 00:00:46,980 --> 00:00:48,570 What about X-linked dominant? 18 00:00:48,570 --> 00:00:49,960 Let's think about that. 19 00:00:49,960 --> 00:00:53,940 So let's say, she was heterozygous for it. 20 00:00:53,940 --> 00:00:55,680 Then you'd have half and half. 21 00:00:55,680 --> 00:00:56,810 So you could still be OK. 22 00:00:56,810 --> 00:00:59,050 Then let's walk through the next generation. 23 00:00:59,050 --> 00:01:01,710 So then, what would this person's genotype be? 24 00:01:01,710 --> 00:01:04,560 Would this person inherit the affected allele 25 00:01:04,560 --> 00:01:07,050 or the unaffected allele from this father? 26 00:01:07,050 --> 00:01:08,850 We're doing X-linked dominant. 27 00:01:08,850 --> 00:01:10,395 And this individual is unaffected. 28 00:01:10,395 --> 00:01:12,270 So it would have to get the unaffected allele 29 00:01:12,270 --> 00:01:14,000 from this father. 30 00:01:14,000 --> 00:01:15,840 We can rule this out. 31 00:01:15,840 --> 00:01:18,120 Now X-linked recessive. 32 00:01:18,120 --> 00:01:19,650 It's our last choice. 33 00:01:19,650 --> 00:01:24,180 Let's just try this by mapping a prospective genotypes 34 00:01:24,180 --> 00:01:26,220 onto this pedigree. 35 00:01:26,220 --> 00:01:30,000 So we'll give an X little a allele and an X big A allele 36 00:01:30,000 --> 00:01:31,960 to indicate the alleles of this gene. 37 00:01:31,960 --> 00:01:33,630 So let's start with the first parent. 38 00:01:33,630 --> 00:01:36,090 So this individual would be X little a, X little a. 39 00:01:36,090 --> 00:01:42,030 This individual would be X big A Y, because he's unaffected. 40 00:01:42,030 --> 00:01:45,270 So we'd have X little a Y. And we'd 41 00:01:45,270 --> 00:01:49,170 have X little a X big A. This individual is 42 00:01:49,170 --> 00:01:51,400 coming from outside the family. 43 00:01:51,400 --> 00:02:00,480 So X big A, X big A. So we have Y and X big A. 44 00:02:00,480 --> 00:02:08,160 This individual will be X big A and X little a. 45 00:02:08,160 --> 00:02:13,590 This individual X big A and Y. Then we 46 00:02:13,590 --> 00:02:22,820 have X little a Y, X big A Y. And then 47 00:02:22,820 --> 00:02:25,700 we have this individual. 48 00:02:25,700 --> 00:02:29,480 I'm going to call this individual individual K. 49 00:02:29,480 --> 00:02:32,810 Do we know individual K's genotype? 50 00:02:32,810 --> 00:02:33,850 No. 51 00:02:33,850 --> 00:02:35,920 But we can see that our data is consistent 52 00:02:35,920 --> 00:02:39,450 with X-linked recessive mode of inheritance. 3871

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