MBG 1000 Chapter Notes - Chapter 12: Beta Thalassemia, Missense Mutation, Hbb
17 Apr 2016
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Mutations add, delete, or rearrange genetic material in a germline cell or somatic cell. In a sickle cell disease, a mutation causes hemoglobin to crystalize in a low-oxygen environment, bending red blood cells into sickle shapes and impairing circulation. In beta thalassemia, beta globin is absent or scarce, depleting hemoglobin molecules. Mutations in collagen genes can disrupt the protein"s precise organization. Mutations in a gene may cause either different versions of the same disease or distinct illnesses. Spontaneous mutations result when rare bases are incorporated during replication. Spontaneous mutations are more frequent in viruses and microorganisms because they reproduce often. Mutagens are chemicals or radiation that increases the risk of mutation. Researchers use mutagens to more quickly obtain mutants, which reveal normal gene function. Site- directed mutagenesis creates and amplifies specific mutations. Mutagens are encountered in the natural environment and may be released in industrial accidents.
