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Understanding Mutations: Impact and Effects on Human Genetics

Gene mutations involve changes in a single gene, while chromosomal mutations affect entire chromosomes. Learn about different types of gene and chromosomal mutations, like point mutations and translocations, and their effects on genetic information. Explore the significance of deletion, duplication, inversion, and translocation in chromosomes.

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Understanding Mutations: Impact and Effects on Human Genetics

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  1. Mutations What are they and how does it affect us?

  2. Mutations • Gene mutations result from changes in a single gene. Chromosomal mutations involve changes whole chromosomes.

  3. Gene Mutation • Point Mutation – Affect one nucleotide thus occurring at a single point on the gene. Usually one nucleotide is substituted for another nucleotide. • Frameshift Mutation – Inserting an extra nucleotide or deleting a nucleotide causes the entire code to “shift”.

  4. Gene Mutation

  5. Chromosomal Mutations • Deletion – Part of a chromosome is deleted • Duplication – part of a chromosome is duplicated • Inversion – chromosome twists and inverts the code. • Translocation – Genetic information is traded between nonhomologous chromosomes.

  6. Chromosomal Mutations

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