Transcript Smurfs, Trolls & Elves

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