Transcript Mutations

Mutation: damage to genetic material
A mutation is usually not beneficial.
Mutagens are things that cause mutations.
They include:
1. High Temperatures
2. Toxic Chemicals (pesticides, etc)
3. Radiation (nuclear and solar)
4. Microwave
5. Fruit from the store
6. Radar /cellular phone waves
TYPES OF MUTATIONS
1. Somatic = Skin cells
2. Germinal = Sperm or Egg
This is more threatening
because they can be passed
to offspring (forever).
Types of mutations
3. Chromosomal:
affecting whole
or a part of a
chromosome
4. Gene: changes
to the bases in
the DNA of one
gene
How do you get mutations?
 Mutations can be inherited.

Parent to child
 Mutations can be acquired.


Environmental damage
Mistakes when DNA is copied
Chromosome Mutations
 Down Syndrome
 Chromosome 21 does
not separate correctly.
 They have 47 instead of
46 chromosomes
 Children with Down
Syndrome develop
slower, may have heart
and stomach illnesses
and vary greatly in their
degree of intelligence.
Chromosome Mutations
 Cri-du-chat
 Deletion of material on 5th
chromosome
 Characterized by the cat-like
cry made by cri-du-chat
babies
 Varied levels of metal
handicaps
Sex Chromosome Abnormalities
 Klinefelter’s Syndrome
 XXY, XXYY, XXXY
 Male
 Sterility
 Small testicles
 Breast enlargement
Sex Chromosome Abnormalities
 XYY Syndrome
 Normal male traits
 Often tall and thin
 Associated with antisocial and behavioral problems
Sex Chromosome Mutations
 Turner’s Syndrome
X
 Female sex organs
don't mature at
adolescence
 sterility
 short stature
Sex Chromosome Mutations
 XXX
 Trisomy X
 Female
 Little or no visible differences
 tall stature
 learning disabilities
 limited fertility
1. Dwarfism
(achondroplasia)
2. Gigantism
(acromegaly)
Acromegaly: André the Giant
Some mutations even make it on
SNL!
Johnny & Edgar Winter
Albinism
albino
Africans
Other Genetic Diseases of Interest
Blue People!
Progeria
Chromosomal Abnormalities
Turners (XO)
Kleinfelters (XXY)
Down Syndrome
Cri du Chat
Nondisjunction of the sex chromosomes
TURNER’S SYNDROME
KLINEFELTER’S SYNDROME
Sickle Cell
Celebrities with Sickle Cell
 T-Boz , Mobb Deep,
Tiki Barber