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