Sudden Death and Sickle Cell Trait: How Knowing Your Genes Can Save Your Life

Dale Lloyd II, No. 39. (The Rice Football Webletter)

2006

After running 16 consecutive sprints of 100 yards each, he collapsed.He died the next day from acute exertional rhabdomyolysis (ER) associated with a genetic condition called sickle cell trait.

Learning Set 4 : Lesson 1 : Slide 1

Normal Blood Cells

Sickle Cell Trait Blood Cells

Sickle Cell Disease Blood Cells

Learning Set 4 : Lesson 1 : Slide 2

Blood Cells

• View video on sickle cell trait

• Interview with sickle cell patient: pain

Learning Set 4 : Lesson 1 : Slide 3

• View Video on sickle cell anemia

Sickle Cell Disease

Red Blood Cell

Oxygen molecule

Hemoglobin subunit

o o

Learning Set 4 : Lesson 1 : Slide 4

Hemoglobin

Red Blood Cell

oxygen molecule (O2)Hemoglobin

subunit

Learning Set 4 : Lesson 1 : Slide 5

Hemoglobin (transport protein)

6

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

7

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

8

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

9

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

10

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

11

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

12

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

13

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

14

Hemoglobin

Learning Set 4 : Lesson 1 : Slide 6

Learning Set 4 : Lesson 2 : Slide 7

Electrophoresis of Sickling and Non Sickling Hemoglobin

Learning Set 4 : Lesson 2 : Slide 8

Electrophoresis of Sickling and Non Sickling Hemoglobin

Chromosome 11

Learning Set 4 : Lesson 2 : Slide 9

Chromosomal Location of Hemoglobin

Learning Set 4 : Lesson 2 : Slide 10

Mutation found in Hemoglobin

Learning Set 4 : Lesson 2 : Slide 11

Mutation found in Hemoglobin

• Charge– Positive and negative charged amino

acids attract each other– Amino acids with the same kind of charge

repel each other• Hydrophobicity

– Hydrophilic amino acids attract water– Hydrophobic amino acids repel water and

hydrophilic amino acids– Hydrophobic amino acids attract other

hydrophobic amino acids.• Cysteines

– Cysteines are a type of amino acid. When two Cysteines are next to each other they attract and form a strong bond. These strong bonds contribute to protein shape formation.

Red = positive charge (+)K, R, H

Yellow = negative charge (-)D, E

Green = hydrophobicA, V, L, I, P, M, F, W

Blue = hydrophilicG, S, T, N, Q, Y

White = cystine C

Learning Set 4 : Lesson 2 : Slide 12

“Rules” that amino acids follow

Learning Set 4 : Lesson 2 : Slide 13

Sickle Cell Hemoglobins Stick Together

Learning Set 4 : Lesson 2 : Slide 14

Electrophoresis of Sickling and Non Sickling Hemoglobin

L T P E E K S L T P V E K S

DNA

order of amino acids

protein shape

cell function

Learning Set 4 : Lesson 2 : Slide 14

Effects of Sickle Cell Mutation

Learning Set 4 : Lesson 3 : Slide 16

Passing on Mutations

http://www.pbs.org/wgbh/evolution/library/01/2/l_012_02.html

Learning Set 4 : Lesson 4 : Slide 17

Frequency of Sickle Cell Causing Mutation vs. Frequency of Malaria Causing Microbe

Analyzing RNA Using Gel Electrophoresis

Learning Set 4 : Lesson 5 : Slide 18

Who has lactose intolerance in Jason’s family?

Learning Set 4 : Lesson 5 : Slide 19

DNA Sequence Analysis of Lactase Protein Gene

Learning Set 4 : Lesson 5 : Slide 20

Gel Electrophoresis: Lactase Protein Samples from Jason’s Family

Learning Set 4 : Lesson 5 : Slide 21

RNA Analysis of Lactase Protein Gene

Learning Set 4 : Lesson 5 : Slide 22

Learning Set 4 : Lesson 5 : Slide 23

DNA Sequence of Area Near the Lactase Gene