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