Genetic Disorders

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Genetic Disorders Genetic Engineering

• Disorders are caused by changes in DNA
• aka mutations

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Karyotype A picture of all the chromosomes in
one cell

• Used to analyze genetic disorders

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Karyotypes
Male
What is the difference? What are the numbers for?
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Down Syndrome

• Trisomy 21 (three copies of chromosome 21)
• Characterostics include learning difficulties,
  mental deficit, a characteristic facial
  appearance
• Heart defects

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Sex Chromosome Disorders

• Turners Syndrome (females) 45, X
• -symptoms shorter than average, usually
  infertile, An especially wide neck (webbed neck)
  and a low or indistinct hairline
• Klinefelters syndromes (males) 47, XXY
• -symptoms include tall stature, and abnormal
  body proportions, may be infertile, have feminine
  features and less developed male features

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Klinefelters vs Turners
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Cystic Fibrosis

• Most common fatal genetic disorder in US 30,000
• CF produces thick mucous that clogs the lungs,
  leads to infection, and blocks the pancreas,
  which stops digestive enzymes
• Caused by a mutation in a single gene

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Sickle Cell Anemia

• Inherited blood disorder
• About 80000 affected in America
• More prevalent in African Americans
• Causes blood cells to be sickle shaped due to
  abnormal hemoglobin protein
• Blood cannot carry _____________________efficientl
  y

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Hemophilia

• Bleeding disorder individuals do not have
  clotting facto and can bleed profusely from small
  injuries or bruises
• X linked trait
• Treatment includes clotting factor, physical
  therapy and even ice packs
• Affected the Royal Family

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Genetic Engineering

• Manipulating or changing the DNA of an organism
• Often done with plants to create genetically
  modified (GMO) food that is resistant to
  pesticide
• Useful applications in medicine creating
  insulin
• textile industry
  fiber production

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Manipulating DNA

• DNA can be cut at certain place using restriction
  enzymes
• DNA can be combined with other DNA to from
  recombinant DNA
• PCR (polymerase chain reaction) copies DNA quickly

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Manipulating DNA

• Genes such as insulin can be taken from a normal
  human cell and inserted into a bacterial cell.
  The bacteria can then produce insulin.
• Transgenic organisms

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Manipulating DNA

• Agriculture - such as larger sheep that grow more
  wool
• Medicine - such as cows that produce insulin in
  their milk
• Industry - such as goats that produce spider silk
  for materials production
• Designer Babies scientists can now manipulate
  the sex of a baby as well as eye color

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DNA Fingerprinting

• Analyzes and identifies a person based on small
  differences in DNA
• Uses Gel Electrophoresis to analyze bands of DNA
• http//www.shsu.edu/chm_tgc/sounds/pushmovies/GE.
  gif

Used in CSI and Paternity tests Who is the
father?