Download Mutations and Genetic Diseases

V. GENETIC CONDITIONS
1.
Genetic Abnormality – rare condition with little or no ill effects
- Ex. Six fingers, albino, colorblindness
2. GENETIC DISORDERS
Inherited condition that results in a medical problem
- Ex. Huntington’s Disease, Sickle Cell Anemia, Hemophilia, Muscular Dystrophy
3. GENETIC DISEASE
A genetic condition that makes the individual susceptible to infection (bacterial or viral)
- Ex. Cystic fibrosis, Down syndrome, SCID (severe combined immunodeficiency disease = bubble boy)
CYSTIC FIBROSIS
•
Cystic fibrosis (CF) is caused by a defective gene which causes the body to
produce abnormally thick and sticky fluid, called mucus.
•
This collection of sticky mucus results in life-threatening lung infections and
serious digestion problems.
•
Millions of Americans carry the defective CF gene, but do not have any symptoms.
•
Today, the average life span for people with CF who live to adulthood is
approximately 37 years, a dramatic increase over the last three decades.
DOWN SYNDROME
•
In most cases, Down syndrome occurs when there is an extra copy of
chromosome 21. This form of Down syndrome is called Trisomy 21. The extra
chromosome causes problems with the way the body and brain develop.
•
Down syndrome symptoms vary from person to person and can range from mild
to severe. However, children with Down syndrome have a widely recognized
appearance.
•
There is no specific treatment for Down syndrome. A child born with a
gastrointestinal blockage may need major surgery immediately after birth. Certain
heart defects may also require surgery.
SCID
•
Severe Combined Immunodeficiency
•
SCID is a group of inherited disorders that cause severe abnormalities of the
immune system.
•
These disorders lead to reduced or malfunctioning T- and B-lymphocytes, the
specialized white blood cells made in the bone marrow to fight infection.
•
When the immune system doesn't function properly, it can be difficult or
impossible for it to battle viruses, bacteria, and fungi that cause infections.
VI. MUTATIONS
Definition – any change in the DNA
Possible outcomes: good, bad, or no effect
Location:
 Somatic Cell (body cell) – can lead to cancer
 Sex Cell – reproductive organ effecting gametes