Smurfs, Trolls & Elves

1. Smurfs, Trolls & Elves

2. Krishna & Cyanide Poisoning

3. Tuareg • Use of Indigo dye is so prevalent that is is passed on to newborns via mother’s blood

4. Meet The Fugates

5. The Fugate-Smith Clan • Troublesome Creek Kentucky • Descendents of Martin & Mary Fugate marry descendents of Richard Smith & Alicia Combs • Intermarriage produces first blue Fugate in 1832 • Cases still seen as recently as 1975

6. Why?

7. Hemoglobin • Hemoglobin A is a tetramer with alpha globular proteins • Each protein containing a porphyrin ring w/ iron+2 ions • Oxyhemoglobin = red

8. Methemoglobinemia • Hereditary Methemoglobinemia (H-met) caused by passage of a mutated gene to offspring • Due to changes in porphyrin ring, RBC carry less O2

10. Why So Common In Fugate-Smith Clan?

11. Fugate Pedigree

12. Changes In Frequency • As railroads and development swept through, the blue Fugates started moving out of Troublesome Creek and marrying other people • The inherited blue began to disappear as the recessive gene spread to families where it is unlikely to be paired to a similar gene

13. Orkney Islands

14. Fish Odor Syndrome • First mentioned in Shakespeare’s The Tempest (re: Caliban) • Body constantly secretes powerful odor of rotting fish • Highest frequency of people with this condition isolated on Orkney Islands

15. Trimethylamineuria • Gene identified in 1997 for gene FMO3 • Disease state caused by inheritance of 2 mutated copies for FMO3 gene

16. Why So Common In Swedish Cows and Orkney Island Fishermen?

17. The Origin of Elves

19. Williams Syndrome • Elvin ears and facial structure/short stature • Often lack of ability to read or write clearly • Frequently, musical, story-telling and social ability enhanced

20. Cause of Williams’ Syndrome • Deletion on chromosome 7

21. Why Does Williams’ Syndrome Persist To This Day?

22. Mutation • Any change in DNA sequence • Not all changes in DNA sequence will result in an altered amino acid sequence. • Mutations may lead to changes in A.A. sequence. • Neutral or beneficial mutations may be passed to future generations, but only if the original mutation is in a germ cell • Negative or somatic mutations are not heritable

23. Point Mutation One change in DNA template One mRNA codon affected Frameshift Mutation Caused by insertion or deletion of base in DNA template All mRNA codons shifted ahead or behind Point v. Frameshift Mutations

26. Point Mutation-Sickle Cell Anemia

28. Why?

29. Alio Nhunte Ri Nth Ejungl Edar • Kan Dac Hines Edentis • Tan Dab Ritis Hquee • Nal Lfi Ttogethe • R

31. Chromosomal Mutations