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Mutations Mutations • Change / alteration to the DNA of an organism • They may be good, bad or have no effect • A plant that can better tolerate the cold (GOOD) • A change that causes some syndrome or illness (BAD) • A change that we never see or notice (NONE) • A driving force behind evolution • A plant that can better tolerate the cold (GOOD) Causes of mutations • Naturally occurring (they just happen) 2/3 of all cancers • Mutagen – something in the environment that causes a change • Examples: radiation (x-rays), pollution and toxic chemicals (Love Canal), smoking, diet, etc…. Types of mutations • Genetic – causes a change in the gene • May only effect one gene • Change in the base (A,T, C, G) • Chromosomal – causes a change in a chromosome or segments of a chromosome Genetic mutations • 1.Deletions: remove a base from the sequence • ATCCGACAG (codons are in groups of 3) • ATCGACAG • 2.Insertions: a base is added to the sequence • ATCCGACAG • ATTCCGACAG • These are both called frameshift mutations they cause a change in how the sequence is read Types of genetic mutations • 3. Substitutions: a base is changed (one is substituted for another) • AGGCAA • AGCCAA • A substitution may not cause any change in the amino acid Examples of genetic mutations • Color blindness – x chromosome (sex linked) • Hemophilia – x chromosome (sex linked) (free bleeding) • Sickle cell – chromosome 11 (causes a change in the shape of red blood cells) Chromosomal mutations • • • • Deletions – chromosome is deleted Duplication – chromosome is duplicated Inversion – chromosome is inverted Translocation – piece of a chromosome is moved to another chromosome (not homologous) • Non-disjunction – chromosomes don’t separate properly Examples of chromosomal mutations • Downs syndrome – trisomy 21 (3 copies of the 21 chromosome total of 47 chromosomes) • Turner’s syndrome – x or piece of the x chromosome is missing (45 chromosomes) • Klinefelter’s syndrome – xxy (47 chromosomes an extra x chromosome)