MICROBIOLOGY AND PARASITOLOGY
UNIT 7 | MICROBIAL GENETICS
MUTATION
- Occurs when the DNA is damaged or
changed in such a way as to alter the
genetic message carried by that gene
FRAMESHIFT MUTATION
- Occurs when all the amino acids in the
protein after a certain point is wrong
- Caused by insertion or deletion of one or
more nucleotides in DNA which leads to a
shift of the “reading frame” during protein
translation
POINT MUTATION
- single nucleotide polymorphisms
FINAL TERM
VMC 40
Missense Mutation
- Type of point mutation that result in a single
amino acid change within the protein
- Ex: In the codon UUG, if the G is substituted
with U, the codon codes for Phe
Nonsense Mutation
- A point mutation in the DNA that inserts a
premature STOP codon into the sequence
- Can result to in a truncated and often
non-functional protein product
Silent Mutation
- A point mutation that codes for the same
amino acid
- Results in a change in the nucleotide
sequence but no change in product.
- Ex: CCC changed to CCA still codes for
Proline
Neutral Mutation
- Occurs in an amino acid codon that results
in the use of a different chemically similar
amino acid
- Similar to silent mutation
- Ex: Change of AUU to AUC will still code for
Isoleucine
Spontaneous Mutations
- Occur without exposure to any obvious
mutagenic agent
- Sometimes DNA nucleotides shift without
warning to a different chemical form without
warning
- Leads to mistakes at the time of DNA
replication
TRESHA MIER C MADROÑAL BSN1C
Somatic Mutation
- Genetic mutation occurring in a somatic cell
providing the basis for mosaicism
- This mutation is not passed along to the
next generation by sexual means

Germline Mutation
- A mutation found in every cell descended
from the zygote to which the mutant gamete
contributed.
- If the owner will reproduce, the mutation will
be passed to another generation Translocations
- Reciprocal Translocations- exchange of
VARIATIONS IN CHROMOSOME STRUCTURE chromosome fragments between non-
homologous chromosomes
- Non-reciprocal Translocations-
Deletions
attachment of chromosome fragments to a
- Losses of chromosome segments
homologous chromosome
- Caused by breakage of the chromosome in
two positions and loss of the segment
between the two breakpoints
- Almost always lethal when homozygous
- Ex: Cri-du-chat syndrome; Prader-Willi
Syndrome

Duplications
- Extra copies of a part of a chromosome
- Usually have no phenotypic consequence
- Ex: Bar-eyes gene – a gene for eye shape
in Drosophila (normal- kidney shaped)
Inversions
- results from the insertion of a chromosome
fragment in reverse orientation
- changes the linear sequence of genetic
information
- types:
a. Pericentric Inversion- breakage
involving a centromere
b. Paracentric inversion-
centromeres are excluded
CENTRIC FUSIONS AND FISSIONS
Centric Fusion
- two acrocentric chromosomes fuse to
produce 1 metacentric chromosome
Centric Fission
- When a metacentric chromosome splits into
two acrocentric chromosomes
VARIATION IN CHROMOSOME NUMBER
if Terms
a. Ploidy – status of the chromosome set in
the karyotype
b. Euploidy – the state of having a balanced
set of chromosomes in any number
c. Aneuploidy – variation in the number of
chromosomes of a set

2
Nondisjunction
- most common cause for numerical
chromosomal aberrations
- problems with the meiotic spindle lead to
failure of chromosomes or chromatids to
separate causing errors in daughter cells

Aneuploidy
a. Monosomy- lack of one chromosome of the
normal complement (ex: Turner’s
syndrome)
b. Disomy- presence of two copies of
chromosomes, normal condition in diploid
organisms but not in organisms that are
normally triploid (3 copies) or above
c. Trisomy- presence of three copies instead
of the normal two, or a particular
chromosome

d. Tetrasomy and Pentasomy- presence of 4

or 5 copies of chromosomes respectively