Errors in Genes and

Chromosomes
 Genes are portions of
DNA at a specific site
called a locus within a
chromosome.
 The genes at a specific
locus encode for a
particular function.
 The genetic sequence
could encode for
 Enzymes
 Hormones
 Structural proteins
 At times, errors or mutations in a gene or
chromosome may occur during:
 Transcription
 Chromosome separation during Mitosis or Meiosis

 Mutations that occur in gamete cells:

 will be present in the organism and
 be passed on to the next generation.
Causes of Mutations
Mutagenic Agents
 These are agents that
cause mutations.
These include:
 Radiation (UV, X-rays)
 Temperature extremes
 Exposure to chemicals
(pesticides
 Mutations are divided into two categories:
1. Point mutations
 At a single gene
 Alterations may occur in the sequence or number of
nucleotides
 
2. Chromosomal mutations:
 More extensive alteration with a part of or entire
chromosome
 Point or Gene Mutations:

 Occur when DNA is transcribed into RNA

 There are two types:
 ‘The child walked down the
street’
 What do you notice about….

 “The child wapked down the street”

1. Substitution:
 One nucleotide is
being substituted or
replaced with another.
 End result is a
different nucleotide
sequence than the
original DNA
sequence
 ‘The child walked down the
street’
 What do you notice about….

 “The child walkxe ddow nth estreet”

X
2. Frame-shift Mutation
 During transcription
nucleotide base pairs
may be inserted or
deleted from the
DNA sequence
Point mutations can lead to the
following outcomes:
Silent Mutations
 Have no effect on the operation of the cell (do not
change the amino acid sequence)
 Usually occurs in the noncoding regions of DNA
Why are they silent?
 Introns are cut out of the mRNA transcript during
transcription, thus mutations never surfaces.
 Genetic code has a redundancy in nature (Ex.
UUU and UUC both code for phenylalanine
Missense Mutations
 Occurs when a change in the base sequence
of DNA alters a codon, therefore a
different amino acid is placed in the protein
sequence.
 E.g. sickle cell anemia (see next slide)
Ex. Sickle Cell Anemia
Nonsense Mutations
 Arises when a change in the DNA sequence
causes a stop codon to replace a codon specifying
an amino acid
 Causes translation to stop short of the end of the
full mRNA.
 Therefore, only the part of the protein that
precedes the stop codon is produced (the
fragment may be digested by cell proteases)
 Are often lethal to the cell
 Chromosomal Mutations
 Portions of a chromosome may break off
and rejoin leading to an interruption in the
sequence of genetic information.
 There are 4 types:
 ‘The child walked down the
street’
 What do you notice about….

 ‘The child down walked the street’

1. Inversion
 A segment of DNA
will break off and be
re-inserted in the
same location but
‘flipped’
 This could result in a
drastically changed
nonfunctional protein.
 ‘The child walked down the
street’
 What do you notice about….

 ‘walked down the street’

 ‘It was a sunny day. The child’
2. Translocation
 A segment of DNA
breaks off a chromosome
and is inserted into
another chromosome.
 At times, portions of
DNA can be exchanged
between two
chromosomes (not only
one a one way process)
 ‘The child walked down the
street’
 What do you notice about….

 ‘The down the street’

3. Deletion
 Loss of a chromosome
segment
 The effects could be
lethal if the deleted
segment codes for vital
proteins.
Ex. Cri-du-chat (The loss of
a portion of chromosome
5, causes an abnormally
developed larynx; makes
the affected infant’s cry
sound like the meowing
of a cat)
 ‘The child walked down the
street’
 What do you notice about….

 ‘The child child child walked down the

street’
4. Duplication:
 Within a
chromosome,
repeated segments of
DNA are seen.
 Nondisjunction
 Improper separation of chromosomes
during:
 Meiosis I
 (homologous chromosomes do not separate)
 Meiosis II or Mitosis
 (sister chromatids do not separate)
 Result?
 Excess or lack of chromosomes
Nondisjunction in autosomal
chromosomes
 During gamete formation, if nondisjunction
occurs with a chromosome pair the resulting
gametes will have one extra or one less
chromosome.
 Thus, when fertilization occurs, the zygote will
have:
 3 copies of one chromosome called TRISOMY or
 1 copy of a chromosome called MONOSOMY
 Ex. Down syndrome
occurs because of an
extra chromosome 21
(trisomic condition)
Nondisjunction in sex
chromosomes
 Nondisjunction in sex chromosomes during
Meiosis will lead to an additional X or Y
chromosome in the offspring.
 This may result in disorders such as Turner
and Klinefelter syndrome
 Sometimes an entire set of chromosomes
do not separate during Meiosis.
 Result?
 The gamete will be diploid
 Upon fertilization the zygote will have 3
sets of chromosomes (3n)
 Rare in animals, but common in plants
 Polypoidy: A cell or an organism in which
the number of complete sets of
chromosomes is greater than two.
 Ex. Seedless
Watermelon
 Breeders cross a
diploid male with a
tetraploid female (4n)
 Result,
 Sterile offspring (no
seeds)
 MUTATION REPAIR MECHANISMS
1) DIRECT REPAIR / PROOFREADING DURING
REPLICATION
 During DNA replication, an incorrect base may be
added to the growing polynucleotide chain. DNA
Polymerase I performs a proofreading function.
 When a mispairing of bases occur during the
replication process, then the enzyme will remove the
improperly placed base and try again. (Helicase, DNA
ligase and other proteins also play a role in this
mechanism
MISMATCH REPAIR
 If a mispairing of bases occurred during
DNA replication and ‘Proofreading’ wasn’t
effective at correcting this error, then
mismatch repair will take place.
 Proteins will excise the mismatched base
and DNA polymerase will add the correct
bases.
3) EXCISION REPAIR
 During the life of a cell, DNA may become damaged due
to hazards such as high-energy radiation, chemicals that
induce mutations, and random spontaneous chemical
reactions.
 Therefore, the cell will rely on excision repair, where
certain enzymes will ‘inspect’ the cell’s DNA.
 When they find mispaired bases, chemically modified
bases or points at which one strand has more bases than
the other, these enzymes cut the defective strand.
 Other enzymes will cut away at the adjacent bases and
DNA polymerase and DNA ligase synthesize and seal up
a new piece to replace the excised one.
 Recap
Errors or Mutations

Chromosomal mutation Gene/point mutation

4 types: Nondisjunction
Inversion Autosomal chromosomes 2 Types:
Translocation Sex chromosomes Substitution
Deletion Polyploidy Frame-shift mutation
Duplication
Questions
 1. A diploid cell (2n) undergoes Meiosis I and II.
Nondisjunction of one pair of chromosomes
occurs during Meiosis I. What are the number of
chromosomes that result in the new gametes?
 Answer:
 diploid (46) haploid (23 + 1) = 24 chromosomes
 Diploid (46)haploid (23 – 1) = 22 chromosomes
Question:
 2. When fertilized, which gamete will produce a
trisomic condition and a monosomic condition?
Explain
 Answer: Trisomic Condition - Gamete with 24
chromosomes will have 3 of the same
chromosomes.
Monosomic Condition – Gamete with 22
chromosomes will have only one chromosome
Homework:
Grade 12 Text: p. 263 #1-4, 6-7 (Use the
genetic code found on p. 240 to answer #6
and 7)