1. Human Genetic Disorders
And Pedigrees

2. Human Genetic Disorders
Cystic Fibrosis – disorder which the body produces thick mucus in the lungs and intestines. It is autosomal,recessive.
Sickle-Cell Disease – affects hemoglobin which carries oxygen in the blood. “Sickle-cells” cause clogging of the blood vessels. It is also autosomal recessive.

3. Sickle Cell

4. Marfan Syndrome
A person with Marfan Syndrome can have abnormally long arms and legs, loose joints, crowded teeth and are prone to ruptures of large arteries. It is autosomal dominant.

5. Lincoln may have had Marfan Syndrome.

6. Breast Cancer
Breast cancer is characterized by malignant tumors growing in the breast tissue. It is autosomal dominant.

7. Genetic Disorders Continued
Hemophilia – disorder where a person’s blood clots very slowly or not at all. People with disease do not produce the protein needed for clotting. It is caused by recessive allele on X chromosome, so it is a sex linked disorder.

8. Color Blindness
Color blindness is a genetic disorder in which an individual cannot distinguish certain colors. It is a sex linked disorder. More males are affected than females. Females are carriers unless they inherit the trait from both parents. It is then linked on both x chromosomes.

9. Can you see the number?

10. Pedigrees
Geneticists use a pedigree to trace the inheritance of traits in humans.
It is a chart or “family tree” that tracks which members of a family have a particular trait.

11. Albinism or Albino.
Albinism is a genetic mutation in which the body does not produce the protein melanin. It is autosomal recessive.
In plants, no chlorophyll is produced.
Animals can have albinism too.

12. Albinism in animals.

13. Albino male.

14. Notation on the Pedigree
A circle represents a female.
A square represents a male.
A completely shaded square or circle indicates the person has the trait.
A unshaded shape indicates that a person is not a carrier or does not have the trait.
A half-shaded shape indicates that a person is a carrier.

15. More on pedigrees.
Square is male, circle is female, shaded has the trait, unshaded doesn’t. Half shaded = carrier.

16. Queen Victoria’s Family and Hemophilia