MUTATION

Pierre S. Lalaqui
Pre-ServiceTeacher
WHAT DID YOU OBSERVE?
WHAT DID YOU OBSERVE?
MUTATION
 Lesson Objectives
 At the end of the lesson you should be able to:

 define mutation;
 Identify different genetic disorders:
 explain gene and chromosomal mutation; and
 create an illustration of chromosomal mutations.
 What is
MUTATION?
 A CHANGE in a gene or
chromosome.
 Changes in the nucleotide
sequence of DNA.
 It has 2 types gene mutation
and chromosome mutation.
 From the Latin word mutare,
meaning “to change.”
GENE MUTATIONS?
 Change in the nucleotide
sequence of a gene.
 If the mutation affects a gene,
then it’s a gene mutation.
 May only involve a single
nucleotide.
o Point Mutation
o Frameshift
o Insertion
o Deletion
o Substitution
 GENE MUTATION
Point Mutation
 Change of a single nucleotide.
 Includes the deletion, insertion, or
substitution of ONE nucleotide in a gene.
 GENE MUTATION
Frameshift Mutation
 Inserting or deleting one or more nucleotides.
 Changes the “reading frame” like changing a
sentence.
 Proteins built incorrectly.
 FRAMESHIFT MUTATION
Substitution
 In a substitution, one base is changed to a
different base.
 Substitutions usually affect no more than a
single amino acid, and sometimes they have no
effect at all.
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
 FRAMESHIFT MUTATION
Insertions and Deletions
 Insertions and deletions are point mutations in
which one base is inserted or removed from the
DNA sequence.
 If a nucleotide is added or deleted, the bases are
still read in groups of three, but now those
groupings shift in every codon that follows the
mutation.
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
CHROMOSOME
MUTATIONS?
 Changing the structure of a
chromosome
 If the mutation affects a
chromosome or multiple genes
it’s a chromosomal mutation.
 The loss or gain of part of a
chromosome.
o Deletion Translocation
o Inversion Duplication
CHROMOSOME MUTATION
Deletion
• Due to breakage
• A piece of a chromosome is lost
CHROMOSOME MUTATION
Deletion
• Due to breakage.
• A piece of a chromosome is lost.
CHROMOSOME MUTATION
Inversion
• Chromosome segment breaks off
• Segment flips around backwards
• Segment reattaches
CHROMOSOME MUTATION
Inversion
• Chromosome segment breaks off
• Segment flips around backwards
• Segment reattaches
CHROMOSOME MUTATION
Duplication
• Occurs when a gene sequence is repeated.
• Duplication produces an extra copy of all or
part of a chromosome.
CHROMOSOME MUTATION
Duplication
• Occurs when a gene sequence is repeated.
• Duplication produces an extra copy of all or
part of a chromosome.
 CHROMOSOME MUTATION
Translocation
• Involves two chromosomes that aren’t
homologous.
• Part of one chromosome is transferred to
another chromosomes.
 CHROMOSOME MUTATION
Translocation
• Involves two chromosomes that aren’t
homologous.
• Part of one chromosome is transferred to
another chromosomes.