BIOS 1700 Lecture Notes - Lecture 32: Sickle-Cell Disease, Missense Mutation, Wild Type

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Polymorphism: relatively common (1 in 50) variations go genetic material in a population, can be harmful or harmless. Types of genetic variations: dna sequences. Genotype: what is happening in a genome, genetic makeup of a cell or organism. A population of a given species is made up with a large number of genotypes. Differences between individuals are large in number but are only a small fraction when looking at the genome: the presence of common mutations in a population are called polymorphisms. Phenotype: the expression of a physical, behavioral, or biochemical trait. Some environmental factors play a role in expression of phenotype. Getting from the genotype to phenotype: effects of genotype on phenotype depend on situation or environment. Allele: different forms of a given gene: usually wild type and multiple mutant types. Sickle cell anemia is due to mutations of the b-globin gene: nonconservative missense mutation to be exact.

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