By: Jack Wernet
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“A gene on one of the non-sex chromosomes that is
always expressed, even if only one copy is present.”
(Human Genome Project Information at the U.S. Department of Energy)
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“Autosomal”
“The gene in question is located
on one of the numbered, or
non-sex, chromosomes”
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“Dominance”
“A single copy of the disease
associated mutation is enough
to cause the disease.”
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Hybrid reproduction
with the recessive
gene results in a
50% chance for
disease in the
offspring.
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A full list of genotypes and phenotypes
Keeps track of genetic diseases
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OMIM – 112500
Autosomal Dominant
Discovered in 1903 by William Curtis Farabee
This was the 1st record of this disease.
In 1951 it was classified as type A1
Brachydactyly
Treatment for this disease is not needed
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Born with the disease
Short Fingers and Toes
Normal lives
There are many different forms of
Brachydactyly.
OMIM – 143100
The gene was discovered in 1933 by many researchers.
Usually appears around the ages 40-50 (live about 15 yrs after
signs)
 Excess CAG triplet mutation in HTT Protein
 Loss of Neurons
 Nothing to cure or stop this disease
 Goal of any treatment is to slow the process of the destruction
of these neurons
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“Symptoms include: poor memory, depression and/or mood swings, lack of
coordination, twitching or other uncontrolled movements, and difficulty walking,
speaking, and/or swallowing. In the late stages of the disease, a person will need
help doing even simple tasks, such as getting dressed.” (The University of Utah)
In all cells of the body
Selectively kills nerve cells
HD patients affect a group of nerve cells at the base
of the brain called basal ganglia.
 It controls the muscle driven movements of the
body.
 HD Basal Ganglia
is smaller,
affecting these
movements
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OMIM – 162200
Can be passed down to children
Can also occur by a genetic mutation
Affects how nerve cells form and grow.
Forms small benign tumors – neurofibromas
No cure yet, but tumor can be surgically removed.
Also symptoms can be treated.
2 major types:
 NF1
 NF2
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“Causes skin changes and deformed bones
and usually starts at birth.” (Medline Plus)
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This type is present at birth
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“Causes hearing loss, ringing in the ears and
poor balance. It often starts in the teen
years.” (Medline Plus)
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Usually begins in a teenager.
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OMIM – 154700
First described and named
after Antoine Marfan in 1896
Causes defects in the
protein Fibrillin
No cure yet, but all
symptoms can be treated.
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A protein that is a part of the connective
tissue in the body.
A defect in Fibrillin causes a defect in the
connective tissue.
Causes extremely long arms, fingers, a very
tall body structure, and loose joints.
Symptoms include: spider like
fingers, flat feet, learning disabilities,
flexible joints, small lower jaw, and a
chest that sinks in or out.
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1% of all cases of Alzheimer is inherited
Usually occurs over the age of 65
Caused by a mutation in the APP gene
There is no cure or treatment to slow down
the process of Alzheimer
Symptoms can be treated
This disease can result in frequent memory
loss, mood swings, loss of confidence and
difficulty performing everyday activities.
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Creates amyloid precursor proteins
Mutation in the gene results in a mutation in
the protein.
This creates an excess amount of amyloid β
peptide which causes Alzheimer disease.
Huntington disease usually appears around
age:
a. at birth
b. 10-20
c. 40-50
d. 65
Huntington disease usually appears around
age:
a. at birth
b. 10-20
c. 40-50
d. 65
A mutation in the APP gene causes what
disease?
a. Alzheimer Disease
b. Huntington Disease
c. Neurofibromatosis
d. Brachydactyly
A mutation in the APP gene causes what
disease?
a. Alzheimer Disease
b. Huntington Disease
c. Neurofibromatosis
d. Brachydactyly