MCB 10 Lecture Notes - Lecture 13: Aniridia, Haemophilia A, Achondroplasia

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Lecture 13 dna mutation and repair: the nature of mutations, mutation a change in a dna sequence, a mutation may occur at the dna or chromosome level. Polymorphism a genetic change that is present in > 1% of a population. Gain-of-function mutations dominant: germline mutations originate in meiosis; affect all cells of an individual, mutations alter proteins. Somatic mutations originate in mitosis; affect only cells that descend from the changed cell. Identifying how a mutation causes symptoms has clinical applications. Examples of mutations that cause disease: beta globin gene, collagen genes: mutations may occur spontaneously or by exposure to a chemical or radiation, mutagen an agent that causes a mutation, spontaneous mutation. Spontaneous mutation rate differs between genes: mitochondrial genes mutate at a higher rate than nuclear genes because they. Each human gene has about 1/100,000 chance of mutating. Each individual has multiple new mutations cannot repair their dna: determining mutation rate.

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