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Mutations – change in DNA Gene and Chromosomal Mutations Mutations 2 Types: Gene mutations: Occur in DNA sequences (bases) Point (substitution) Frameshift (deletion or insertion) Chromosomal mutations: Occur in chromosomes Deletion Duplication Inversion Translocation Gene Mutations Changes in bases of DNA Types: Point and Frameshift Point Mutation Substitution – Changes in one base pair in DNA Affects one AA Example: GCA vs. GTA Substitution Frameshift Mutation • Insertion – Addition of a base • Deletion – Removal of a base **Can affect all AA after it** Example: TACGCA TATCGC Deletion Insertion Causes of Mutations Spontaneous Mutations – Occur at random Environmental Causes of Mutations X Rays, UV LIGHT, radioactive substances, chemical exposure Chromosomal Mutations Changes in pieces of the chromosome Types: Deletion, Duplication, Inversion, Translocation Chromosome Structure DNA wrapped around histone proteins forming bead-like units or “nucleosomes” These are coiled forming a “super coil” which coils to form a “chromosome” Chromosomal Analysis Karyotype – Photograph of chromosomes of an individual arranged by size and shape Chromosome Determine Sex of Individual Autosomes – Chromosomes that are the same in male and female (chromosome pairs 1-22) Sex chromosomes – One pair that determines sex (chromosome pair 23- X is longer) XX – Female, XY - Male Normal Female Normal Male Problems with chromosome number result from defective gametes. They occur because homologous chromosomes separated incorrectly during cell division (non-disjunction.) This defective gamete becomes a part of the zygote and new organism. Chromosomes Number Abnormalities Trisomy – Diploid cell with an extra chromosome Trisomy 13 (Patau Syndrome) Trisomy 21 (Down’s Syndrome) Down’s Syndrome – Trisomy 21 Patau’s Syndrome Monosomy – Diploid cell missing a chromosome (Turner’s Syndrome – Short Stature, sterility, other health complications are possible) Turner’s Syndrome Polyploidy – An extra entire set of chromosomes; plants with polyploidy tend to be heartier Chromosome Structure Abnormalities Mutations- Change in genetic material 4 Types: 1. Deletion – Fragment breaks off and is lost 2. Duplication – Fragment breaks off and attaches to homologous chromosomes giving it two copies 3. Inversion – Fragment breaks off and reattaches backwards 4. Translocation– Fragment breaks off and joins non-homologous chromosome Many mutations don’t have an effect. Some are harmful while others are helpful. **They provide genetic variety in a species. How can you tell the difference between a gene mutation and a chromosomal mutation? Which is a gene mutation? Which is a chromosomal mutation?