BLUE PEOPLE OF KENTUCKY

We’re not talking about...

• The smurfs• Clinically depressed

people• Fans of B.B. King• Avatar inhabitants

Not Kentucky Fans

WHO ARE THEY?The "Blue People" are descendents of Martin Fugate, who suffered from a recessive gene which limits or stops the production of the enzyme diaphorase.

• The lack of this enzyme gives people a blueish cast to their skin rather than pink.

• Few people still have this gene.

Fugate FamilyFather + 4 children are blue

Luna Fugate and John Stacey

• Lorenzo Dow Fugate and Eleanor Fugate. Lorenzo Dow was also know as "Blue Anze"

Of Lonesome Creek, Kentucky

In Hazard, the County Seat

What makes them blue?

• Methemoglobinemia• Red blood cells (RBC) from blue people are

deficient in NADH diaphorase activity and cannot reduce the oxidized iron in methemoglobin (metHb).

Symptoms

• Blue colored skin• Headaches• Fatigue• Coma• Death

NOT THIS GUY!

• Paul Karason• a bad case of dermatitis, which results in

swollen, reddened and itchy skin. He started self-medicating, using a treatment called colloidal silver

Can you pick out the blue relative?

Blue Lips

Degree of Blueness

• RBC from the parents of blue people (obligate heterozygotes for the blue trait - Bb) do contain some NADH diaphorase activity but not as much as homozygotes (BB) for the normal allele.

Let’s make a Pedigree

• What’s that? • A Family Tree• a chart representing family relationships

in a form resembling a tree. As normally presented these trees "grow" down from the top, from the oldest generations at the top to the newer generations at the bottom.

Pedigree Symbols

More Pedigree Symbols

Blue Pedigree of Fugates

• = male with it

• = female with it

Pedigree of Fugates

•Can you work out the genotypes?

Pedigree with Genotypes

• trait visible

• carrier

Treatment

• The homozygous patient (bb)

• daily ingestion of ascorbic acid to increase non- enzymatic reduction of methemoglobin

• or the use of methylene blue.

You Will Make a Pedigree of Your Own Family

GET INSTRUCTION SHEET

Choose a trait from the lab of Inheriting Human Traits (the one you drew the face on)

Pedigree Animation

• Media Showcase: Pedigree