Facts about Genes
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| Size of Human genome | 3.2 X 109 bp
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| Total SNPs | > 11 Million
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| Human vs Chimp | 99% similar for SNPs 96% similar overall
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| Human vs Human | 99.9% similar for SNPs
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| Large INDELS / translocations/ inversions | Rare but serious
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| Tandem repeat polymorphisms | Microsatellites (1-6 bp)
Minisatellites (11-100 bp)
Many cause genetic diseases
Used in fingerprinting
predicted to be > 100,000
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| SNPs | ~ 1 per 300 bp
(one snp per 0.1 to 1 kb length)
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| Transitions | Purines (A,G) interconversions
Pyrimidine (C,T) interconversions
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| Transversions | Purine (A,G) <-> Pyramidine (C,T)
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| most frequent SNP | C->T (2/3 ofa all SNPs)
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| SNP if | frequency in population > 1%
(Point mutation fixed in the population)
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| Mutation if | < 1%
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| SNPs ideal genomic markers | Dense
Easy to assay
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Created by:
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