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Mutations

• Mutation: A change in the genetic material. • A change in the DNA sequence • Mutations can be: - harmful to the organism - have no effect (neutral) - beneficial

Point mutations b. CHROMOSOMAL MUTATIONS: changes in the number or structure of chromosomes . GENE MUTATIONS: Mutations that produce changes in a single gene A gene is a sequence of DNA that codes for a protein (and in thus determines a trait). Frameshift mutations 2.Types of Mutations 1. a.

Gene Sequence Start signal Gene Stop signal .

Point mutation: change in one or a few bases.Gene Mutations A. One base is changed to another: substitution Substitutions usually affect a single amino acid .

the protein that carries the oxygen.the amino acid glutamic acid is replaced by valine 1 amino acid out of 237 is different!! .Sickle Cell Anemia • Sickle shaped red blood cells get stuck in narrow blood vessels. damaging organs. It can be fatal • Problem: a point mutation in the gene that codes for hemoglobin. • One base changes in the DNA (A for T) --.

B. Frameshift Mutations: These mutations occur when a base is inserted or deleted from the DNA sequence. The new protein can be so different that is not functional . Insertions and deletions affect the reading frame of a protein by shifting the codons.

the airways become clogged with a thick mucus. As a result. Abnormal CFTR does not have the protein The cells in the person’s airways are unable to transport chloride ions. the amino acid phenylalanine is missing from the CFTR protein. Normal CFTR has a chloride ion channel in cell membranes. As a result.Cystic Fibrosis: 3 DNA bases deleted (inherited disease) Chromosome #7 CFTR gene In cystic fibrosis 3 DNA bases are missing. .

Duplication: a piece of chromosome is duplicated .Chromosomal Mutations • Changes in the number and structure of chromosomes A. Deletion: a piece of chromosome is lost B.

C. Inversion: a piece of chromosome is reversed or flipped around D. Translocation: A piece of chromosome breaks off and attaches to another .

sickle cell anemia) • If the change affects only one base. . the mutation may be neutral because the amino acid sequence does not change • Some mutations are the source of genetic variability (variation) in species. and these changes can be beneficial.Are mutations good or bad? • Mutations that cause drastic changes in the structure of a protein can be harmful (cystic fibrosis.

. • Mutations that occur in the body cells (somatic) affect the living individual but are not passed to the offspring.Are all mutations passed to the offspring? • Only mutations that occur in the reproductive cells (gametes) can be passed to the offspring.

• Nitrogen mustard. a component of poisonous mustard gas used in World Wars I and II. UV (Ultraviolet) light • UV radiation: skin cancer – The mutation damages the DNA and the cell cannot control cell division (control proteins are damaged) .Mutagens or mutagenic agents • Mutagens: a natural or human-made agent which can change the structure or sequence of DNA. • Radiation: X-rays. cause mutations in cells.