Definition: changes to an organism’s DNA sequence

Genetic Disorders in HumansSickle-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

Albinism

Progeria

What causes mutations?Wrong base is added during DNA replication.Environmental factors:

UV rays (sunlight, tanning beds)X-raysRadiationChemicals Cigarette smoke

Mutations can lead to cancer, diseases, nothing, or an advantageMutations accumulate with age

How do mutations change a trait?

Mutation

Normal

Example

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

SubstitutionSubstitution: One base is switched for anotherTHE FAT CAT ATE THE RAT.

THE FAT CAP ATE THE RAT.

SubstitutionDNA: CCT GAG GAG CCT GTG GAG

Pro – Glu – Glu Pro – Val – Glu

One base is changed, so only one amino acid could be changed

Ryan Clark

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

Sickle Cell AnemiaAbnormal hemoglobin that distorts red blood cells

Substitution: Example

Frame Shift MutationInsertion: A base is added to the DNA

THE FAT CAT ATE THE RATTHE FAT ECA TAT ETH ERA .

Deletion: A base is removed from the DNATHE 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.

Fruit Flies and Mutations