Biology 2581B Lecture Notes - Lecture 12: Sickle-Cell Disease, Craig Venter, Southern Blot
Document Summary
Not all individuals within a species have identical genomes. Any location within the genome that has a defined chromosomal location. Irrespective of function: coding or non-coding, short or long, single base pair substitution one gene several genes, locus can be within a gene. Allele genetic variation at a specific locus. Snps: snps are the most common genetic variation single bp change, spontaneous during replication, snps are base pair substitutions. How to detect snps: which base pair at a specific location. This requires a lot of knowledge beforehand: sequence surrounding, to pick the right restriction enzyme. In pcr the first step is to increase temperature to denature strands: decrease temperature to allow annealing of primers 50-60 degrees, allows us to bind the primers and then subsequence amplification. A perfect match will anneal the two: low temperature = anneals, higher temperature = anneals, high temperature = denature.