1. Mutations

2. Chromosomal Mutations
Nondisjunction
Result of errors in Meiosis
Results in gametes with missing or extra chromosomes
Examples: Downs Syndrome, Turner’s Syndrome, Kleinfelters Syndrome

3. Nondisjunction

4. Chromosomal Mutations
Broken chromosomes
Deletions = section of chromosome is lost during cell division
Inversion = broken section of chromosome is reversed and reattached to the chromosome

5. Chromosomal Mutations
Duplication = fragment attaches to its homologous chromosome
Translocation = fragment attaches onto a nonhomologous chromosome

6. Sources of Genetic Variation
Independent assortment
Crossing over
Mutations

7. Types of Mutations in Genes
Point mutation
Mutation in a single base pair

8. Types of Mutations in Genes
Frame shift mutation
Alters the entire amino acid sequence

9. Genetic Disorders Single gene defect Treatments
Mutation in an allele (point mutation or frame shift)
Examples: cystic fibrosis, sickle cell disease, Huntington’s
Treatments
Modify lifestyle
Drug therapy
Gene therapy

10. Genetic Disorder Diagnosis
Fetal Screening
Amniocentesis
Ultrasound
Newborn Screening
Blood tests can screen for a few disorders (PKU)
Gene Testing
DNA tested to see if carrying a specific gene.

11. Pedigree
Allows us to track traits and/or mutations among related individuals over many generations