Meet the fugates
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Meet The Fugates. “The Blue People of Kentucky”. Where: Troublesome Creek Kentucky Who: Fugates & Smith Clans What: Intermarriage produces first blue Fugate in 1832. Why?. Hemoglobin. Hemoglobin A is a tetramer with alpha globular proteins

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The blue people of kentucky
“The Blue People of Kentucky”

  • Where: Troublesome Creek Kentucky

  • Who: Fugates & Smith Clans

  • What: Intermarriage produces first blue Fugate in 1832


  • Hemoglobin A is a tetramer with alpha globular proteins

  • Each protein containing a porphyrin ring w/ iron+2 ions

  • Oxyhemoglobin = red


  • Hereditary Methemoglobinemia (H-met) caused by passage of a mutated gene to offspring

  • Due to changes in quaternary level of hemoglobin structure, RBC refuses to release oxygen to the cells

Changes in frequency
Changes In Frequency

  • The railroad brought new people to Troublesome Creek while other natives left

  • The blue condition began to disappear as the mutated gene spread to families where it was paired with normal genes for hemoglobin

Fish odor syndrome
Fish Odor Syndrome

  • Body constantly secretes powerful odor of rotting fish

  • Highest frequency of people with this condition isolated on Orkney Islands


  • Gene identified in 1997 for gene FMO3

  • Disease state caused by inheritance of two mutated copies of FMO3 gene (located on chromosome 1)

Cleidocranial dystosis

  • Noted by lack of collarbone, permanent soft spots in skull and supernumerary teeth

  • Caused by mutations in the CBFA2 gene of chromosome 6

  • Produced when one copy of gene has mutation and other copy is normal

Williams beuren syndrome
Williams-Beuren 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

  • Aortic stenosis and hypercalcemia

Cause of williams beuren syndrome
Cause of Williams-Beuren Syndrome

  • Deletion on 26 genes on chromosome 7

Why does williams beuren syndrome persist to this day
Why Does Williams-Beuren Syndrome Persist To This Day?

Mutation key points
Mutation: Key Points

  • Any change in DNA sequence

    • Any nucleotide has 1: 1x109 chance of changing

  • Changes may occur during replication or after (de novo)

  • Mutations may lead to changes in A.A. sequence.

  • Not all changes in DNA sequence will translate into an altered amino acid sequence

    • Wobble Position

  • Neutral or beneficial mutations may be passed to future generations, but only if the original mutation is in a germ-line cell

  • Negative or somatic mutations are not heritable

Point v frameshift mutations

Point Mutation African Populations?

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

Point mutation sickle cell anemia
Point Mutation-Sickle Cell Anemia African Populations?

Meet the fugates
Why? African Populations?

Meet the fugates

Chromosomal mutations
Chromosomal Mutations African Populations?

Translocations of the sry gene
Translocations of the SRY Gene African Populations?

Sry gene mutations and athletics
SRY Gene Mutations and Athletics African Populations?