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DNA and Mutations . Mutation Facts #1-5 . Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video 3 – Repair Addition and Deletion Mutations. What is a Mutation? . change in the DNA code

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mutation facts 1 5
Mutation Facts #1-5
    • Write down five facts about mutations as we go through the following videoclips
  • Video 1
  • Video 2 – Repair
  • Video 3 – Repair
  • Addition and Deletion Mutations
what is a mutation
What is a Mutation?
  • change in the DNA code
  • Lead to frameshifts – the message is no longer correctly passed
  • Protein Outcomes:
  • 1. changed – different from the original
  • 2. no change - silent mutations
  • 3. incomplete - amino acid is changed to a "stop" codon
3 types of mutations
3 Types of Mutations:
  • 1. Substitution - one base for another
  • Sickle-cell Anemia
  • GAG into GUG
  • Valine becomes glutamic acid
slide5

2. Insertion - extra bases

  • Huntington\'s disease – CAG repeat
  • fragile X syndrome – CGG repeat
fragile x syndrome
Fragile X syndrome
  • triplet CGG is repeated (CGGCGGCGGCGG, etc.).
  • repeats as few as 5 or as many as 50 will not cause harm. Even 100 repeats usually cause no harm.
  • longer repeats have a tendency to grow longer from one generation to the next (as many as 4000 repeats).
slide7

3. Deletion - a section of DNA is lost, or deleted.

  • DuchenneMuscular Dystrophy (DMD)
  • DMD gene codes for dystrophin (protein)
  • protein holds skeletal muscle cells together - missing in DMD
mutations lead to genetic disorders
Mutations lead to Genetic Disorders
  • One Wrong Letter - Tay Sachs
  • Finding Cures is Hard - Cystic Fibrosis
chromosome disorders
Chromosome Disorders
  • Chromosome: Coiled DNA and proteins
chromosome arrangement
Chromosome Arrangement
  • Called a Karyotype
  • Receive one from mom, one from dad, they are homologs
slide11

Chromosome 21

“Trisomy 21’

Down Syndrome

kleinfelter s syndrome xxy
Kleinfelter’s syndrome- XXY
  • Male
  • Develop some breast tissue
  • Little body hair
  • typically tall
  • Infertility results - no sperm
turner s syndrome x
Turner’s Syndrome– X
  • No Y means Turner’s people are female.
  • no ovaries develop don’t undergo puberty and they are sterile.
  • Hormone treatment cures all but the sterility.
  • Other symptoms: short stature, webbed skin and low hairline at the neck
mutations good or bad
Mutations – good or bad?
  • Discuss with your lab partner.
reflection
Reflection
  • DNA codes for proteins. If DNA is mutated, how might this cause a disease? (Connect proteins to disease).
  • How is it possible for two identical twins, with identical DNA sequences, have different traits – for instance one gets cancer and one does not.
what is epigenetics
What is Epigenetics?
  • the study of changes in phenotype (appearance) or gene expression caused by mechanisms other than changes in the DNA
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