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Transcript
Smurfs, Trolls & Elves Krishna & Cyanide Poisoning Tuareg • Use of Indigo dye is so prevalent that is is passed on to newborns via mother’s blood Meet The Fugates 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 Why? Hemoglobin • Hemoglobin A is a tetramer with alpha globular proteins • Each protein containing a porphyrin ring w/ iron+2 ions • Oxyhemoglobin = red Methemoglobinemia • Hereditary Methemoglobinemia (H-met) caused by passage of a mutated gene to offspring • Due to changes in porphyrin ring, RBC carry less O2 Why So Common In Fugate-Smith Clan? Fugate Pedigree 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 Orkney Islands 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 Trimethylamineuria • Gene identified in 1997 for gene FMO3 • Disease state caused by inheritance of 2 mutated copies for FMO3 gene Why So Common In Swedish Cows and Orkney Island Fishermen? The Origin of Elves 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 Cause of Williams’ Syndrome • Deletion on chromosome 7 Why Does Williams’ Syndrome Persist To This Day? 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 Point v. Frameshift Mutations • 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 Mutation-Sickle Cell Anemia Why? • Alio Nhunte Ri Nth Ejungl Edar • Kan Dac Hines Edentis • Tan Dab Ritis Hquee • Nal Lfi Ttogethe •R Chromosomal Mutations
