Questions

1. The families involved lived in small, close knit, isolated communities. Why is this both a help and a hindrance to studying their genetics? This could help, because it would mean that all the people would be right there, not spread about the country. It could also be bad, because there may not be enough people to do test on, or study from.

2. Through the various links below, you will find several different pedigrees purporting to be the "real" pedigree of the blue people. Why are the pedigrees different?

3. Which of the pedigrees is most likely the correct one? Support your answer.

4. What is the probability that any child of Daniel and Laura Stacy will be blue? 1 in 4 chance

1. What causes the blue color in the people? A shortage of Hemoglobin... or something like that 2. Give a brief description of how enzymes work. enzymes work by lowering the activation energy for a reaction, thus dramatically increasing the rate of the reaction 3. Describe the function of normal hemoglobin. It is the gene of DNA. iron-containing oxygen-transport metalloprotein in the red blood cells of vertebrates. 4. What causes the disorder methemoglobinemia? One cause is a defect in the body's systems to reduce methemoglobin to hemoglobin. The other cause is a mutant form of hemoglobin that cannot bind to oxygen. 5. What types of treatments are there? There is a pill called Methylene Blue that turned their skin to a regular color. But it is only temporary. 6. Is there a cure? They also think that Methylene Blue will also cure it, if the person uses it for a long while.

7. What is the name of the enzyme that functions in us to allow us to not be blue? Diaphorase

1. What are the main family names for the Blue People? Stacy and Fugate

2. Who were the original parents? Martin Fugate and Elizabeth Smith

3. Who is living today? and Where can they be found? They can be found in TroubleCreek Kentucky

4. Who are the following people and why are they important to the story of the Blue People of Kentucky? a. Benjy Stacy- He was the one that brought it out into the public eye. b. Madison Cawein- He was one of the first people to search for the blue people after hearing rumors about them existing. c. Ruth Pendergrass- She started the medical instrest in finding a cure for the blue people after a blue lady walked in and asked for a blood test. d. E.M. Scott

5. What was Dr. Cawein's hypothesis about the cause of blueness? Methemoglobinemia

6. How did he test this hypothesis? Tested their blood

7. What did Dr. Cawein’s assay of the blue people’s blood show? -deficiency of NADH diaphorase

8. Why is methylene blue an antidote for blueness? inhibiting the enzyme guanylate cyclase

9. Where else are blue people found? Technically it could happen anywhere.

10. Why isn’t this condition more well known? The blue people live in small somewhat isolated communities

11. What does Benjy Stacy mean when he says, “I’m kin to myself.” It means that he is related to himself by intermarriage that they "blue people" of Kentucky usually do.

12. What happened to the blueness phenotype when people moved out of Troublesome Creek, Kentucky? Why? Due to inbreeding, (because of lack of selection in Troublesome Creek), which all came from generally the same family, the Fugates, so people married others with the same gene. Therefore, when they moved, they were less likely to marry and have kids with someone that had a methemoglobinemia, and have blue children, so their kids would likely not carry the gene.

13. What other conditions can cause blueness? Methemoglobinemia

14. Is the trait dominant or recessive? Recessive.

15. Is the trait linked to any other trait? this trait does not seem to be linked to any other type of disease, and or trait.

16. Why are the blue people important for genetic study? The chances this trait spreads through family members, and any certain other traits improve the chance of blueness. Diaphorase 1. hemoglobin 2. Ferrous 3. Reduction 4. oxidation 5. enzyme 6. iron 7. oxygen 8. erythrocyte 9. Fugate 10. Variant 11. red blood cells 12. Methylene Blue 13. 'something' Acid 14. RBC (red blood cells, I think) 15. hand