Genetic Mutations

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Genetic Mutations Disorders

• Mechanisms for Evolution

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I. Mutations changes

• Mutations may cause
• Nothing
• Death or impairment
• ___________
• Mutagen - ________________
• Radiation (x-rays, sunlight, etc)
• Chemicals
• Mutations may affect
• Somatic cells
• Germ Cells

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D. Types of Mutations

• Chromosomal alterations
• Change in ________ of chromosome
• Deletion (leave space between each)
• Duplication
• Inversion
• Translocation

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• Change in ________ of chromosomes
• Nondisjunction
• Monosomy missing one
• - Turners syndrome _____
• Trisomy extra one
• - Down syndrome _______ 21
• - Klinefelters syndrome ______
• Polyploidy (3N, 4N, etc not from nondisjunction,
  but hybridization)
• Usually sterile in animals
• More common in plants

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• Gene mutations change in the chemistry of DNA
  (smaller scale)
• Occurs during __________
• Affecting one gene
• Affecting one nucleotide
• Substitution (Fig. 12-7)
• Frame shift (Fig. 12-8) added or removed
  nucleotide

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See Table 12-3 pg 230 in text

• Sickle cell anemia autosomal _______,
  substitution of one base
• Phenylketonuria (PKU) autosomal recessive
• Tay Sachs disease autosomal recessive
• Hemophilia ______ disorder

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Important Research (videos and discussion)

• - Human Genome Project
• Biotechnology
• Cloning
• Gene Therapy
• Stem cell research

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Deletion

• ABCDEFGHI
• ABCDEFG

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Duplication

• ABCDEFGHI
• ABBCDEFGHI

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Inversion

• ABCDEFGHI
• ABCDEIHGF

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Translocation

• ABCDEFG ?
• ABCDEYZ
• TUVWXYZ?
• TUVWXFG

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https//media.wcu.edu/groups/hemoglobin/wiki/4edc5
/images/dbf00.jpg