PCB 3063 Lecture Notes - Lecture 9: Chromosomal Inversion, Chromosomal Translocation, Chromosome Abnormality

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Lecture 9: structural abnormalities in a gene are different from those in an entire chromosome. Insertions or deletions are where one base pair is added or moved: the only mutations where it"s not disastrous to an amino acid are when the mutations are in groups of three. If one base pair is inserted or deleted, then the entire reading frame is shifted, and the entire protein is most likely not functional: there are also insertions, deletions, and other structural changes to chromosomes as well. It is called a syndrome where there is a collection of phenotypic traits to describe it. Some are deadly, but we need mutations to have evolution: fun fact: almost our entire immune system molecules are from duplications, these can happen due to unequal crossing over. Usually because there are repetitive sequences that flank the area and can cause misalignment: duplications are usually less harmful than deletions, but they can still cause problems.

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