MCB 2400 Lecture Notes - Lecture 11: Robertsonian Translocation, Copy-Number Variation, Gene Duplication

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Deletion: (loss of two gene loci) abcdg: duplications and deletions: due to unequal crossing over during prophase i (recombination) Crossing over normally occurs between homologous chromosomes: translocations. Movements of genetic material between nonhomologous chromosomes. Chromosomes do not share the same genes. Equal exchange between chromosomes (looks like crossing over but. I give you something but you don"t give me anything back. Add in something to another chromosome: do not exchange. Breakage point, fusing of q arms of two different nonhomologous chromosomes. Order of alleles changes ( linkage group changes) May lead to an alteration in gene function and regulation. Gametes are subject to serious, sometimes large duplication and deletions. Polyploidy: entire sets of chromosomes: not very relevant for humans as cells are not viable, occurs in plants, triploidy: three copies of each chromosome. Gene dosage and altered characteristics: bar phenotype (characteristic) Becomes more narrow/bar like with increasing copies: fruit fly: wild type.

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