Biology 3592A Lecture Notes - Lecture 6: Comparative Genomic Hybridization, Sanger Sequencing, Mutation

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Somatic mosaicism: implications for disease and transmission genetics. Mosaicism: mosaicism: genetic variation present within the genome of different cells within a single individual. A violation to fundamental principle of biology (cid:498)dna blue print of a multicellular organism is identical among cells within organism(cid:499) 2 cell populations with distinct genotypes due to mutation. Somatic: variation in the genome of cells that make up the body of the organism & do not contribute to gametes produced by the individual. Gonadal: variation in the genomes of cells that specifically contribute to the gametes. Gonosomal: variation in the genomes of both somatic cells and germline cells: constitutional variation: genetic variation that is present in the genome of every (or the vast majority) cell in an individual. It occurs in tissue compartments that undergo somatic mutation post- fertilization. Does not mean immutable; can be immune to change: chimerism: an individual that"s composed of the products of 2 fertilization events (presence of cells from another individual)

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