CSB349H1 Study Guide - Midterm Guide: Deoxyribonuclease I, Wild Type, Plasmid

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Answers in % are 0. 5 worth half value: you are a medical geneticist, and you have been given a genomic dna sample from a patient. You need to test this genomic dna sample for the presence any copy-number variations (cnvs). (5 marks total) 5: describe a technique you would use to test this without using genome sequencing. 2 a of the major steps involved and any relevant controls. (3 marks) Extract genomic dna from cells and shear it into ~500-1000bp chunks (if stated that dna is already labelled when it is extracted lose this mark) Use purified polymerase, random primers and fluorescently modified dntps to synthesize a labeled copy of the genomic fragments in vitro. Hybridize the fluorescently labeled fragments to the array or chip. Measure the fluorescence intensity using a special scanner. Compare to reference genome: the results of your experiment show a prominent cnv in one region of the genome.