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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 --> 00:00:02,660 1 00:00:02,660 --> 00:00:06,470 MICHAEL HEMANN: Here's a pedigree of Fragile X syndrome. 2 00:00:06,470 --> 00:00:12,590 Now, Fragile X syndrome is an X-linked dominant condition. 3 00:00:12,590 --> 00:00:16,760 The severity tends to be less in females than males, 4 00:00:16,760 --> 00:00:20,450 but it still represents or appears 5 00:00:20,450 --> 00:00:22,230 as a dominant condition. 6 00:00:22,230 --> 00:00:24,260 So we can see it's dominant because it's 7 00:00:24,260 --> 00:00:27,360 present in every generation. 8 00:00:27,360 --> 00:00:31,792 So it has this dominant trend of inheritance. 9 00:00:31,792 --> 00:00:33,500 And one of the ways that you can actually 10 00:00:33,500 --> 00:00:37,550 tell that this is an X-linked dominant condition, the males, 11 00:00:37,550 --> 00:00:41,330 like this male that's affected, will always 12 00:00:41,330 --> 00:00:46,330 have affected daughters because they will always 13 00:00:46,330 --> 00:00:50,110 inherit an affected allele from the father. 14 00:00:50,110 --> 00:00:53,085 So the father only gives a single X allele, 15 00:00:53,085 --> 00:00:54,460 and if it's a dominant condition, 16 00:00:54,460 --> 00:00:57,685 that will always manifest in a daughter with two X's. 17 00:00:57,685 --> 00:01:00,340 18 00:01:00,340 --> 00:01:05,349 We see seven children that are the offspring of affected 19 00:01:05,349 --> 00:01:07,540 fathers. 20 00:01:07,540 --> 00:01:10,960 And all of the daughters are affected. 21 00:01:10,960 --> 00:01:13,750 Now, whether this is definitive evidence 22 00:01:13,750 --> 00:01:19,315 that this is X-linked dominant or not would depend on what? 23 00:01:19,315 --> 00:01:21,790 How could we actually figure out whether this 24 00:01:21,790 --> 00:01:26,170 is X-linked dominant or is the inheritance 25 00:01:26,170 --> 00:01:29,140 pattern consistent with autosomal dominant? 26 00:01:29,140 --> 00:01:31,150 How would we do that test? 27 00:01:31,150 --> 00:01:32,080 Chi-square, right? 28 00:01:32,080 --> 00:01:35,890 So if it were autosomal dominant, 29 00:01:35,890 --> 00:01:38,770 we'd expect half of these daughters to be affected. 30 00:01:38,770 --> 00:01:40,570 If it's X-linked, we'd expect all of them. 31 00:01:40,570 --> 00:01:42,362 But we would do the kind of chi-square test 32 00:01:42,362 --> 00:01:45,290 that we talked about last time to figure this out. 33 00:01:45,290 --> 00:01:47,720 So there are, of course, other modes of inheritance. 34 00:01:47,720 --> 00:01:51,430 This is an example of mitochondrial inheritance, 35 00:01:51,430 --> 00:01:53,800 where the alteration that's relevant 36 00:01:53,800 --> 00:01:55,480 is actually in the mitochondrial genome. 37 00:01:55,480 --> 00:02:00,790 Here, affected mothers always pass it on to their children. 38 00:02:00,790 --> 00:02:02,590 And affected fathers, because they 39 00:02:02,590 --> 00:02:04,420 aren't passing on mitochondria in sperm, 40 00:02:04,420 --> 00:02:06,310 never pass it to their children. 41 00:02:06,310 --> 00:02:08,560 So it has this sort of characteristic pattern, where 42 00:02:08,560 --> 00:02:11,530 all the progeny of affected females are affected, 43 00:02:11,530 --> 00:02:16,180 and none of the progeny of affected males. 44 00:02:16,180 --> 00:02:17,860 And there are also different cases, 45 00:02:17,860 --> 00:02:20,920 like there's Y-linked inheritance that 46 00:02:20,920 --> 00:02:21,940 would be the same. 47 00:02:21,940 --> 00:02:24,470 These tend to be rare conditions, 48 00:02:24,470 --> 00:02:28,300 but again, they are part of characteristic patterns 49 00:02:28,300 --> 00:02:30,880 of inheritance that you can recognize doing this kind 50 00:02:30,880 --> 00:02:32,800 of pedigree analysis. 51 00:02:32,800 --> 00:02:37,180 And again, we do statistical tests and statistical analysis 52 00:02:37,180 --> 00:02:40,450 to determine whether our hypothesis, given 53 00:02:40,450 --> 00:02:43,180 a particular pattern of inheritance, can be true 54 00:02:43,180 --> 00:02:46,350 or can be excluded by the data. 4123

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