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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Meet The Fugates

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Meet the fugates

Meet The Fugates


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


Meet the fugates

Why?


Hemoglobin

Hemoglobin

  • Hemoglobin A is a tetramer with alpha globular proteins

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

  • Oxyhemoglobin = red


Methemoglobinemia

Methemoglobinemia

  • 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


Why so common in fugate smith clan

Why So Common In Fugate-Smith Clan?


Fugate pedigree

Fugate Pedigree


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


Orkney islands

Orkney Islands


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


Trimethylamineuria

Trimethylamineuria

  • Gene identified in 1997 for gene FMO3

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


Why so common in orkney island fishermen

Why So Common In Orkney Island Fishermen?


Cleidocranial dystosis

Cleidocranialdystosis

  • 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


Why more new mutations found in european populations than in african populations

Why More New Mutations Found In European Populations Than In African Populations?


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 v. Frameshift Mutations


Point mutation sickle cell anemia

Point Mutation-Sickle Cell Anemia


Meet the fugates

Why?


Meet the fugates

  • Alio Nhunte Ri Nth Ejungl Edar

  • Kan Dac Hines Edentis

  • Tan Dab Ritis Hquee

  • Nal Lfi Ttogethe

  • R


Chromosomal mutations

Chromosomal Mutations


Translocations of the sry gene

Translocations of the SRY Gene


Sry gene mutations and athletics

SRY Gene Mutations and Athletics


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