Transcript Mutation

HW:
Quiz Tuesday!!
Castle learning:
genetics 2 and 4
When you hear the word mutation
what words do you think of?
Abnormal
A Change
Mutation
Alternation
Mutation:
Any change in the DNA
sequence that also changes the
protein it codes for.
Mutation
Mutations in DNA can happen
through two causes
1.) Damage from
environmental agents
Aka mutagenic agents
Ultra Violet Light
Toxic Chemicals
X-Rays
2.) Mistakes
made in
replication of DNA
during cell division
DNA Strands are copied
Mitosis
during_____________
What could go wrong?
ATT GCC
ACT GCC
After Replication in
nucleus
This single Base exchanged in the
DNA is known as point mutation
What happens to the
Forms with different amino acids
protein?_____________________________
THE DOG BIT THE CAT
THE DOB ITT HEC AT
THE DOB ITT HEC ATA Z
Frame Shift Mutation
When one or more
bases are deleted or
inserted into the newly
copied DNA strand
Deleted
letter G
Added the
letters A & Z
Complete Quiz
is a disease that is caused by an
abnormality in an individual's DNA
(mutations).
Abnormalities can range from a small
mutation in a single gene to the addition
or subtraction of an entire chromosome or
set of chromosomes.
These disorders result when a
mutation causes the protein
product of a single gene to be
altered or missing
Examples: Galactosemia
and Cystic Fibrosis
Galactosemia is a rare
disorder that affects the
body's ability to break
down a food sugar
called galactose (found
in milk and other dairy
products).
In these disorders, entire
chromosomes, or large segments
of them, are missing, duplicated,
or otherwise altered
Examples:
•Sickle Cell Anemia,
•Turner’s syndrome,
• Huntington’sDisease,
•PKU,
•Down’s syndrome,
• Klinefelter’s syndrome
Chromosomal Mutations
1.) Gene duplications leading to
multiple copies of same gene located
within the chromosome.
2.) Deletions of large chromosomal
regions, leading to loss of the genes
3.) Chromosomal inversions:
reversing the orientation of a
chromosomal segment.
Gene P
Gene Q
Gene Q
Gene P
4.) Chromosomal translocations: interchange of
genetic parts from non-homologous chromosomes.
Down syndrome is a developmental
disorder caused by an extra copy of
chromosome 21 called "trisomy 21".
Having an extra copy of this
chromosome means that
each gene may be
producing more protein
product than normal.
downs animation
is caused by a missing or
incomplete X chromosome.
People who have Turner
syndrome develop as females.
The genes affected are
involved in growth and
sexual development, which is
why girls with the disorder
are shorter than normal,
inability to produce egg cells
and have abnormal sexual
characteristics.
Klinefelter syndrome
is a disorder that affects only males
have an extra X chromosome (XXY)
giving them a total of 47 instead of the normal 46
chromosomes.
PKU Phenylketonuria
affects the way the body breaks down protein
If not treated shortly after birth,
PKU can be destructive to the nervous system,
causing mental retardation
PKU is caused by a mutation in a gene on
chromosome 12
Williams syndrome
affects a child's growth, physical appearance,
and cognitive development.
People who have Williams syndrome are
missing genetic material from chromosome 7,
including the gene elastin.
Huntington’s disease
destroys cells in part of the brain that controls
movement, emotion, and cognitive ability.
HD is caused by a mutation in a gene on
chromosome 4.
Disorders that result from
mutations in multiple genes, often
coupled with environmental
causes.
Examples: Colon, Breast, Ovarian Cancers,
Hypothryoidism, Alzheimer’s
Six-Legged Boy suffering from
Polymelia
Polymelia
• The disorder occurs in the womb when the cells form
abnormally during embryonic development and the
embryo begins to develop as conjoined twins, but
later stops developing and leaves remaining
developments of the disintegrated fetus attached to
the body of the other.
• The extra limbs and legs were the result of a genetic
disease which would affect only one in a million or
more babies.
Polymelia
• Doctors had to first examine MRI, blood tests
and CT scan reports to determine which of the
legs belonged the boy and which to his
parasitic twin before the operation
After Surgery