1. Blue People of Kentucky A pedigree study

2. Troublesome Creek 6 generations ago after a French orphan named Martin Fugate claimed a land grant in 1820 and settled on the banks of eastern Kentucky's Troublesome Creek,Troublesome Creek,

3. Eastern Kentucky Coal Country, Hazard County

4. He came with… his red-headed American bride, the former Elizabeth Smith, whose skin was as pale as the mountain laurel that blooms.

5. Fugates had 7 children The father and four of the children are "blue".

6. John Stacey married Luna Fugate "the bluest woman I ever saw

7. Married a lot of Kin Lived in the holler Did not get out much Might marry the girl next door, even is she had the same last name.

8. Pedigree of the Fugates of Troublesome Creek

9. What does it mean? Fugate Phenotypes and Gentoypes

10. Pedigree Symbols

11. CLICK Genetic Cases

12. Luna’s Pedigree

13. Figuring out the problem Dr. Madison Cawein was a hematologist at the University of Kentucky Medical Center when he heard stories about the blue people.

14. What causes the blue? Carries oxygen No oxygen In reduced state oxidized state

15. Lacking an enzyme: diaphorase On chromosome 22

16. Different levels of blue

17. Interpret

18. NADH Diaphorase Activity in Blue People Red blood cells (RBC) from blue people are deficient in NADH diaphorase activity and cannot reduce the oxidized iron in methemoglobin (metHb).NADH diaphorase activity

19. METHEMOGLOBINEMIA Is a disorder that lacks the enzyme for the hemoglobin to take in oxygen.

20. Dr. Cawein’s Treatment He injected Patrick and Rachel with methylene blue and within a few minutes, they both turned pink! methylene blue