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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 --> 00:00:00,562 1 00:00:00,562 --> 00:00:02,190 MICHAEL HEMANN: So with these markers, 2 00:00:02,190 --> 00:00:06,270 these dinucleotide repeat markers, maybe there 3 00:00:06,270 --> 00:00:14,180 are around 1,000 informative markers in the genome. 4 00:00:14,180 --> 00:00:17,630 5 00:00:17,630 --> 00:00:22,010 And so our genome is haploid, about 3 billion bases. 6 00:00:22,010 --> 00:00:25,800 7 00:00:25,800 --> 00:00:29,760 And if you divide this by 1,000, then it 8 00:00:29,760 --> 00:00:36,900 means that they're spaced about 3 million bases apart. 9 00:00:36,900 --> 00:00:46,860 So 3 million base spacing between markers. 10 00:00:46,860 --> 00:00:48,810 And so this is pretty informative. 11 00:00:48,810 --> 00:00:53,220 It puts us in the neighborhood if we're 12 00:00:53,220 --> 00:00:56,820 looking to map a particular gene to a particular location, 13 00:00:56,820 --> 00:00:58,740 but not really-- 14 00:00:58,740 --> 00:01:01,590 it gives us the block, but not the house number. 15 00:01:01,590 --> 00:01:07,350 And so we need to find a way to do finer mapping. 16 00:01:07,350 --> 00:01:12,840 And the way that we do that is by looking at single nucleotide 17 00:01:12,840 --> 00:01:15,510 polymorphisms, or SNPs. 18 00:01:15,510 --> 00:01:24,558 19 00:01:24,558 --> 00:01:27,100 And we'll talk a lot more about this later in the class 20 00:01:27,100 --> 00:01:29,100 when we're talking about genome-wide association 21 00:01:29,100 --> 00:01:30,270 studies. 22 00:01:30,270 --> 00:01:34,650 But SNPs, as the name suggests, are just single nucleotide 23 00:01:34,650 --> 00:01:36,060 polymorphisms. 24 00:01:36,060 --> 00:01:37,320 They are distinctions. 25 00:01:37,320 --> 00:01:40,980 You have the same base in some place in the genome. 26 00:01:40,980 --> 00:01:48,640 One allele is an A and the other is a T. So just a single base 27 00:01:48,640 --> 00:01:51,122 difference between alleles. 28 00:01:51,122 --> 00:01:53,080 And again, they can have different frequencies. 29 00:01:53,080 --> 00:01:57,020 Sometimes having a T is very, very rare. 30 00:01:57,020 --> 00:01:59,920 And so we call something a SNP if it's 31 00:01:59,920 --> 00:02:04,180 present in greater than 1% of the population. 32 00:02:04,180 --> 00:02:08,530 33 00:02:08,530 --> 00:02:16,560 So it must be present in, say, at least 1% of the population. 34 00:02:16,560 --> 00:02:20,240 35 00:02:20,240 --> 00:02:22,400 But there are tons of these. 36 00:02:22,400 --> 00:02:35,360 So there are estimated maybe 10 million SNPs in the genome. 37 00:02:35,360 --> 00:02:39,110 And so given a 3 billion base genome, 38 00:02:39,110 --> 00:02:48,670 they're spaced around maybe 330 base pairs apart. 39 00:02:48,670 --> 00:02:49,800 Now, this is an average. 40 00:02:49,800 --> 00:02:51,870 Some are very close to one another, 41 00:02:51,870 --> 00:02:55,450 some are actually quite far away from each other. 42 00:02:55,450 --> 00:02:57,690 And there are spaces that are highly 43 00:02:57,690 --> 00:03:01,050 repetitive in the genome where it's difficult to look at SNPs. 44 00:03:01,050 --> 00:03:03,690 There are some places that are highly conserved within genes, 45 00:03:03,690 --> 00:03:06,990 for example, where that frequency is quite low. 46 00:03:06,990 --> 00:03:11,370 But again, we can have a really high resolution 47 00:03:11,370 --> 00:03:12,610 map of the genome. 48 00:03:12,610 --> 00:03:15,510 So our chromosomes are essentially 49 00:03:15,510 --> 00:03:17,040 covered in these SNPs. 50 00:03:17,040 --> 00:03:19,590 And so this allows us to do linkage studies 51 00:03:19,590 --> 00:03:22,920 and really map genes to very, very, very, very 52 00:03:22,920 --> 00:03:27,670 specific locations if we have enough people 53 00:03:27,670 --> 00:03:31,640 and if we have enough informative SNPs. 3887

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