Biology 2581B Lecture 12: Detection of Mutation PPT + Notes

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Mutations are more restricted when associated with disease and things like that. If a type of variation or type of genetic alteration is >1% polymorphic. Now can compare genomes not only with different species but also within species. Craig and james first ppl to have genome sequenced. Number of nucleotide substitutions pretty similar between all races. Most of the variations have no functional consequence. 1% is actually a huge number to differ by. Close to the word marker (known location) Ex mutant alleles specific genes compare functional consequences with different alleles. Cnps if you talk about an insertion, you have extra sequences, that copy number for that area can be different now. Homozygous t have t on both chromosomes. Take genomic dna, run on gel, get smears, highlight single band in all those. Isolate dna from a person that carries this allele, cut the dna with ecori 3 restriction sites. Only see fragment complementary to the probeyou made.

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