Download Notes on Mutations - Solon City Schools

Human Chromosomes

Humans have _______ chromosomes organized into ______ pairs.

There are two types:
1. Sex chromosomesa. XXb. XY2. Autosomal chromosomes- (aka autosomes)
Karyotype- A picture of a person’s genome.
Chromosomes are organized into homologous
pairs.
What is a mutation?
Mutations
Mutations vary based on what type of cell they occur in and how much of the chromosome is affected.
I. Two types of cells in a human bodyGerm Cells-
Somatic Cells-
II. Chromosomal vs. Gene/DNA mutations
Gene/DNA mutations-
Ex’s-
Chromosomal mutations-
Ex’s
MUTATIONS IN THE DNA
As one can imagine, the process of protein synthesis does encounter errors from time to time. Many of these
errors in the final sequence of amino acids can be traced back to errors in the original strand of DNA. The
following sheet will examine various errors and their effect on the primary sequence of protein structure and
ultimately the final shape and function of the protein.
P
I.
O
SUBSTITUTIONS: As the name implies, a substitution mutation changes one or more nucleotides in
original DNA sequence. The ramifications of this type of mutation vary from going unnoticed to
completely changing the final shape of the protein.
I
NORMAL STRAND OF DNA:
N
A. SUBSTITUTED BASE PAIR:
TACTTTGACGTGACT
Name___________________
T
TACTTCGACGTGACT
Effect
M
U
B. SUBSTITUTED BASE PAIR:
TACATCGACGTGACT
Name___________________
T
A
Effect
T
I
C. SUBSTITUTED BASE PAIR:
TACTCCGACGTGACT
Name___________________
O
N
Effect
S
II.
F
R
INSERTION: This type of mutation involves the addition, not substitution of a nucleotide, in the original
strand of DNA.
NORMAL STRAND OF DNA:
TACTTCGACGTGACT
INSERTION
A
M
E
S
H
I
F
T
III.
DELETION: This type of mutation involves the removal of one or more of the nucleotides in the original
strand of DNA.
NORMAL STRAND OF DNA:
DELETION:
TACTTCGACGTGACT
CHROMOSOMAL MUTATIONS
The mutations on the front are problems in the nucleotides of the DNA molecule. Entire chromosomes
encounter mutations as well. The pictures below depict some of these chromosomal mutations. Using the
mutations listed below, see if you and your partner are able to identify the type of mutation pictured. Once
you feel you have identified the type of mutation, please attempt to explain the mutation.
THE MUTATIONS ARE….
A.
B.
C.
D.
A
Insertion
Translocation
Deletion
Inversion
B
D
C
Chromosome
E
BEFORE THE MUTATION
AFTER THE MUTATION
TYPE ONE: _______________________
A
B
D
C
E
A
C
A
B
D
E
Explain:
TYPE TWO: ________________________
A
B
C
D
E
C
E
D
D
E
Explain:
TYPE THREE: _______________________
A
B
C
D
E
A
B
C
B
C
Explain:
TYPE FOUR: ________________________
A
B
F
C
G
Explain:
D
H
E
F
A
B
C
G
D
H
E