1. (7 th ) Chapter 6-2 Cornell Notes Human Genetic Disorders

2. Chapter 6-2: Key Questions What are two major causes of genetic disorders in humans? How do geneticists trace the inheritance of traits? How are genetic disorders diagnosed and treated?

3. Chapter 6-2: Key Terms genetic disorder pedigree- karyotype-

4. Chapter 6-2 Paragraph 1 genetic disorder: abnormal hereditary condition; causes: change in chromosome # or structure (mutation); or changes in DNA; examples: cystic fibrosis, sickle-cell disease, hemophilia, Down syndrome.

5. Chapter 6-2 Paragraph 2 cystic fibrosis caused by abnormally thick mucus in lungs; recessive allele; no cure but treatments available.

6. Chapter 6-2 Paragraph 3 sickle-cell disease affects hemoglobin; symptoms include weakness, pain; allele codominant w/ normal allele; one allele “carrier” w/out symptoms.

7. Chapter 6-2 Paragraph 4 hemophilia: disorder where blood clots slowly or not at all; missing clotting protein; caused by recessive allele on X chromosome.

8. Chapter 6-2 Paragraph 5 Down syndrome caused by extra chromosome on #21; chromosomes failed to separate during meiosis; physical and mental impairments; can lead full, active lives.

9. Chapter 6-2 Paragraph 6 pedigree: tool to trace inheritance; it tracks traits in family members.

10. Chapter 6-2 Paragraph 7 doctors use karyotypes to diagnose genetic disorders; karyotype: picture of chromosomes in the cell; determines correct number of chromosomes; therapies: medical care, education, job training, physical therapy, etc.

11. Chapter 6-2 Paragraph 8 genetic counseling helps deal with concerns about genetic disorders in a family history; tools: pedigrees, karyotypes and Punnett squares.