1. Human Genetics

2. Pedigree
Graphic representation of genetic inheritance
Family tree

3. Pedigree

4. RecessiveTraits Attached earlobe Hitchhikers thumb
2nd toe larger than big toe

5. Recessive Disorders Cystic Fibrosis Abnormal amounts of mucus in lungs
Abnormal cilia in lungs
Death by age 20
1 in 20 white Americans are carriers

6. Recessive Disorders
Albinism
Lack of pigmentation

7. Recessive Disorders Tay Sachs
Absence of enzyme that breaks down lipids
Lipids build up in the brain causing brain damage
Death by age 5
Amish and Ashkenazic Jews

8. Recessive Disorders Phenylketonuria-PKU
Absence of enzyme that breaks down phenylalanine
Phenylalanine builds up causing brain damage
Treated with diet

9. Recessive Pedigree

10. Recessive Pedigree

11. Dominant Traits
Widows peak,free earlobes, dimples, cleft chin, polydactyly

12. Dominant Disorders Huntington’s Disease Fatal degeneration of brain
Onset of symptoms age 30-50
After having children

13. Dominant Pedigree

14. Dominant Disorders Achondroplasia Most common type of dwarfism
85% new mutations from normal parents
Genotypes
dd: Normal
Dd: Dwarf
DD does not survive

15. Sex- Linked Disorders Defective genes on X chromosome
Carrier mother passes defective gene to son
Affected males pass defective gene to daughter (carrier)
Affected females are rare

16. Sex- Linked Disorders Red-green colorblindness
Defective red and green light receptors in eye
Ishihara-colour-test-plates/
what color blind people see

17. Colorblindness Genotypes
XRXR :Normal Female
XRXr :Carrier Female
XrXr :Colorblind Female
XRY :Normal Male
XrY :Colorblind Male
No way to have a carrier male

18. Sex- Linked Disorders Hemophilia Absence of blood clotting enzyme
youtube: tainted bood pt 1
youtube: tainted bood pt 1
youtube: tainted bood pt 2

19. Royal Hemophilia Pedigree

20. Codominant Disorders Sickle-cell anemia
1 in 12 African Americans are carriers
Genotypes
HH Normal Hemoglobin
HS both normal and defective hemoglobin
Sickle-cell Trait
Few or no symptoms

21. Codominant Disorders SS all hemoglobin is defective
Red blood cells become sickle shaped
Carry less oxygen

22. Codominant Disorders Beneficial mutation
HS and SS are immune to malaria
HH is not immune
Youtube:evolution of sickle cell

23. Sickle-Cell Pedigree

24. Pedigree Practice
The pedigree shows the inheritance of free earlobes and attached earlobes in five generations of a family. Attached earlobes are caused by a recessive allele (f).

25. Pedigree Practice

26. Pedigree Practice

27. Pedigree Practice

28. Pedigree Practice