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Mutations. Definition: changes to an organism’s DNA sequence. Genetic Disorders in Humans.

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Mutations

Mutations

Definition: changes to an organism’s DNA sequence


Genetic disorders in humans
Genetic Disorders in Humans

Sickle-Cell Disease Hemophilia albinism Phenylketonuria Cystic Fibrosis Tay Sachs Disease colorblindnessAdrenoleukodystrophy (Lorenzo's Oil)Herditary DeafnessCoffin-Lowry SyndromeAchondroplasia (dwarfism)Fragile X Syndrome

Huntington's DiseaseMarfan Syndrome (Alton Giant)Trisomy 13 (Edward's Syndrome)Phenylketonuria (PKU)Rett SyndromeKlinefelter SyndromeTurner SyndromeRett SyndromeProgeria (premature aging)Xeroderma pigmentosumGaucher DiseasePrader-Willi SyndromeDuchenne Muscular Dystrophy

Can we cure these disorders?







What causes mutations
What causes mutations?

  • Wrong base is added during DNA replication.

  • Environmental factors:

    • UV rays (sunlight, tanning beds)

    • X-rays

    • Radiation

    • Chemicals

    • Cigarette smoke

  • Mutations can lead to cancer,

    diseases, nothing, or an advantage

  • Mutations accumulate with age


How do mutations change a trait
How do mutations change a trait?

  • Normal

  • Mutation

  • Example


What is a mutation
What is a mutation?

  • A change in the DNA nucleotides

  • 2 general types:

    • Point Mutation or Substitution

      1 base in the DNA is changed or substituted for another

    • Frame Shift Mutation

      1 base is added or removed so the reading frame is shifted over


Substitution
Substitution

  • Substitution: One base is switched for another

  • THE FAT CAT ATE THE RAT.

  • THE FAT CAP ATE THE RAT.

??


Substitution1
Substitution

DNA: CCT GAG GAG CCT GTG GAG

Pro –Glu– Glu Pro – Val – Glu

  • One base is changed, so only one amino acidcould be changed


Ryan clark

Substitution: Example

Ryan Clark

Sickle Cell Anemia

Abnormal hemoglobin that distorts red blood cells

January 3, 2012:

“The Pittsburgh Steelers safety and leading tackler won’t play in Sunday’s NFL playoff game at the Denver Broncos due to a blood condition that led to major medial complications the last time he played in the mile-high altitude of Denver.”

- From USAtoday.com


Frame shift mutation
Frame Shift Mutation

  • Insertion: A base is added to the DNA

    • THE FAT CAT ATE THE RAT

    • THE FAT ECA TAT ETH ERA .

  • Deletion: A base is removed from the DNA

    • THE FAT ATA TET HER AT  C in “CAT” is gone.

  • Adding or deleting a base shifts the reading frame.

    • All of the codons after the mutation are changed, so all the amino acids are changed.



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