MUTATI

ONS AND G

ENETIC

DISEASES

P AR

T 4

V. GENETIC CONDITIONS1. 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. MUTATIONSDefinition – 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