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12.

4 MUTATIONS
I. Kinds of Mutations
Mutations are changes in the genetic
material
A. Gene mutations changes in a
single gene
1. point mutation changes in one or
a few nucleotides
3 TYPES OF MUTATIONS
a. substitution one base is changed to
another
* usually affects only one amino acid
b. insertion or deletion a base is
added or removed from DNA
sequence
FRAMESHIFT
MUTATIONS
i. Insertion & Deletion are known as
frameshift mutations because the
reading frame of the genetic
message is shifted when a base is
added or removed
ii. may change every amino acid that
follows the point of mutation
iii. can alter a protein so much that it
can not function
Gene Mutations: Substitution,
Insertion, and Deletion

Deletion
Substitution Insertion
CHROMOSOMAL
MUTATIONS
B. Chromosomal mutation changes in
the number or structure of
chromosomes
1. Four types of chromosomal
mutations:
a. Deletion all or part of
chromosome is lost
CHROMOSOMAL
MUTATIONS
b. Duplication produces extra copies
of parts of a chromosome
c. Inversion reverses the direction
of parts of chromosomes
d. Translocation part of one
chromosome breaks off and attaches
another chromosome
Chromosomal Mutations

Deletion

Duplication

Inversion

Translocation
MUTATIONS
II. Significance of Mutations
A. many mutations are neutral and
have little or no effect on expression
of a gene or function of protein
1. mutations allow genetic diversity
in a species
MUTATIONS
B. harmful mutations are the causes of many
genetic disorders or even cancer
C. beneficial mutations produce proteins
that can be helpful in different
environments
MUTATIONS
Meiosis is a process where gametes
(sex Cells) half the number of
chromosomes.
a. Nondisjunction occurs when a
complete set of chromosomes fails
to separate during Meiosis.
b. gametes (sperm & egg) may produce
triploid (3N) or tetraploid (4N)
organisms
What happens if nondisjunction occurs?

The gamete will die or result in


conditions known as trisomy or
monosomy.
Trisomy - a person has more than 2
copies of the same chromosome.
Monosomy a person only has one
copy of a chromosome.
How can you tell that?

Take a picture of the chromosomes


This is known as a karyotype.
Normal Female Karyotype
Normal Male Karyotype
Abnormal Karyotype-Trisomy #21
Downs Syndrome
Abnormal Karyotype Monosomy of
the X chromosome
Turners Syndrome