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CNP Notes

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Biology 3594A
Kathleen Hill

CNPcopy number polymorphism 1 or greater of the population Neutral mutation a mutation that has no effect on fitness In other words it is neutral with respect to natural selection Mutations can be in regulatory elements and have effects on expression Mouse reference genome is G6 ProbandmaleDiscordant for a phenotypeone individual has it one does not NAHR Nonallelic Homologous Recombination NonAllelicmeans they are similar but not identical and they can facilitate crossing over between the two strands Intrastrand same strandInterstrand between homologous chromosomes SINE short interspersed nuclear elementsLINE long interspersed nuclear elementsLow complexityLTR long terminal repeatsSatellite repeats large tandemly repeating non coding ie centromeres heterochromatinGood candidate geneDopaminechemical relevant to the brain NeurodevelopmentRepetitive elementsIn patients de novo not in discordanceIn suspect genes expressed in the brain In common pathways
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