Transcript ppt

To demonstrate understanding, after this lesson,
you should be able to
 define
mutations
 explain how mutations occur
when – DNA Replication or Meiosis
how – radiation &mutagenic chemicals
 recognize point (N-base) mutations
(insertions, deletions and substitutions)
 recognize chromosomal mutations
(deletion, duplication, inversion, insertion,
translocation)
I. Mutations
 …are
any change in the DNA of an
organism.
 May
not have any affect or may cause a
major deformation, illness.
I. Mutations
 …are
any change in the DNA of an
organism.
 May
not have any affect or may cause a
major deformation, illness.
I. Mutations
Any change in DNA is a mutation.
caused by mistakes during…
 DNA replication of mitosis
 Transcription
 meiosis
Also can be caused by environmental factors like…
 Radiation
 Carcinogens
Mutations in Reproductive (Sex)
Cells VS. Body cells
-Mutations in sex cells a.k.a. gametes
(sperm and egg cells) can be passed
down to a person’s children, but might not
affect the parent
-Mutations in body cells cannot be passed
on to your children, however, they can
cause cancer or other problems
II. Cancer as a result of mutations in
body cells:
II. Cancer as a result of mutations in
body cells:
Carcinogensenvironmental/chemical
factors that cause
cancer
Tongue cancer and lung cancer
are often caused by changes in
body cells as a result of
smoking, so don’t smoke!!!
III. Gene Mutations

Point Mutation


only 1 codon is affected
example: “substitution mutation”
AUC GGA UCC  AUC CGA UCC
THE FAT CAT WAS MAD
THE FUT CAT WAS MAD
III. Point mutation
mRNA
Normal
Protein
Stop
Replace G with A
mRNA
Point
mutation Protein
Stop
Point mutations in our lives!
-Sickle cell anemia is a blood disease caused by a
SUBSTITUTION point mutation.
-A single nucleotide is changed from “A” to “T”
which causes the amino acid to change from
glutamic acid to valine:
Amino acids: Thr – Pro – Glu – Glu
Normal: ACT CCT GAG GAG
Sickle cell: ACT CCT GTG GAG
Amino acids: Thr – Pro – Val – Glu
Point mutations in our lives!
-People with sickle cell
anemia often
experience a lot of
pain and swelling
and have trouble
exercising.
IV. More Gene Mutations
 Frameshift


Mutations –
will affect several if not all of the following
codons! (MAJOR PROBLEM!)
Example: “Deletion” – one base was left out.
AAU CGA GGA …  AAC GAG GA…
(What is missing?)
AAU CGA GGA …  AAC GAG GA…
IV. Frameshift mutation
-A frameshift mutation is when one nucleotide
is inserted or deleted from the DNA or
mRNA strand.
-A frameshift mutation is worse…. WHY???
Ex: DNA TACTTCAAACCGCGTAACATT
mRNA
Protein
Difference between a substitution
mutation and a frameshift mutation.
substitution
THE FAT CAT WAS MAD…
THE FAC ATW ASM AD…
Deletions cause a shift in the codons…just
like leaving a letter out, it makes no sense!
Other Frameshift Mutations:

“Insertion” – an extra base is added.
ACC GAU GUC…  ACU CGA UGU C…
(What was added?)
ACC GAU GUC…  ACU CGA UGU C…
THE FAT CAT WAS MAD
THE FAD TCA TWA SMA D…
Once again, this makes no sense!
Questions:
Is this a substitution mutation or a frameshift
mutation?
-It’s a substitution mutation because G was replaced
with a T!
Questions:
THE DOG BIT THE CAT
THE DOG BIT THE CAR
Substitution or frameshift?
Substitution!
Questions
THE DOG BIT THE CAT
THE DOB ITT HEC AT
Substitution or frameshift?
Frameshift! The mutated sentence makes
no sense (non-sense) and thus the protein
will not be made
Chromosome Mutations
 …are
usually damaging.
 An
entire piece of a chromosome may be
deleted, moved or damaged.
 ALL
INFORMATION ON THE AFFECTED
SECTION MAY BE LOST OR FOREVER
CHANGED (and is useless).
Types of Chromosome Mutations

Deletion – the whole chromosome is gone!
Duplication – now you have 2 sets of the same
stuff.
 Inversion – one part of a chromosome gets
moved to another area on the SAME
chromosome.
 Translocation – a section of a chromosome is
stuck on a DIFFERENT chromosome

Chromosome Mutations
Summarizing
 define
Can you…
mutations
 explain how mutations occur
when – DNA Replication or Meiosis
how – radiation &mutagenic chemicals
 recognize point (N-base) mutations
(insertions, deletions and substitutions)
 recognize chromosomal mutations
(deletion, duplication, inversion, insertion,
translocation)