Module 3

• Copy number variations (CNVs), are large areas of DNA >500bp that are present in different amounts person to person (large portions that have been duplicated or deleted compared to the human reference genome).
• Single nucleotide polymorphisms (SNPs) – single base-pair changes or variants in the genome.
• • Polygenic disorders are probabilistic ( genes interacting with environment)
  • monogenic disorders which are often deterministic but much less common.)
• ‘Foreign’ DNA (containing gene of interest) is injected into the male pronucleus (nucleus of sperm cell after it has entered egg) of the fertilized mouse egg.  Eggs are then transplanted back into the female for embryos to develop, and a litter is born.  Successful transgenic mice contain an extra piece of DNA and can express the protein e.g. the transgenic jellyfish green fluorescent protein