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
Can't find what you're looking for?
Get subtitles in any language from opensubtitles.com, and translate them here.