Genetic Disorders Clip 49

Huntington’s Disease 49 1/2 Huntington's disease (Huntington's chorea) is a progressive, degenerative disease that causes certain nerve cells in your brain to waste away. As a result, you may experience uncontrolled movements, emotional disturbances and mental deterioration. The disorder was documented in 1872 by American physician George Huntington. Fatal----ages:30-60 Dominant Allele 49 1/2

Colorblindness Sex-linked trait Gene for color vision located on the X chromosomes. Males are more likely to have colorblindness because they have only one X chromosome 50

What do you see? What do you see? 51 The individual with normal color vision will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness will see a 2 revealed in the dots. 51

52

TEST 53

Down Syndrome Sister chromatid DO NOT separate during Meiosis. 3 copies of chromosome #21. Sister chromatid DO NOT separate during Meiosis. (or homologues fail to separate ) Nondisjunction 54

Nondisjunction Sister chromatid DO NOT separate during Meiosis. Or homologues fail to separate during Meiosis.

Down Syndrome - Trisomy 21 55

56

Nondisjunction 57

Down Syndrome 58

Cystic Fibrosis 59 CF is caused by a recessive allele on chromosome #7. Deletion of 3 bases. Affects the body's respiratory and digestive systems. Asian & African- less likely to have.

Hemophilia 60 Recessive allele Sex-liked Trait Located on the X chromosome Missing a protein necessary for blood clotting Major bleeding from minor cuts. 60

61

People who carry the tendency to have sickle cell anemia are less likely to die from malaria. 62

Tay-Sachs Harmful quantities of a fatty acids accumulate in the nerve cells of the brain. Caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials Fatal 62 1/2