Mutation Notes
A mutation is a permanent change in the nucleotide sequence of the DNA.
Germ-line mutations: if it occurs in gametes (sex cells), the mutation can be inherited, leading to the
formation of new alleles.
Somatic mutations: if it occurs in somatic cells (body cells), the mutation is not passed on to
offspring.
Type of mutation What happens Result
Point A single nucleotide base is Potential effects:
changed, deleted, or inserted.
- No effect
Changed: ATG GCT CCT ATG GTT - Reduced capacity to
CCT perform role.
- Total loss of function
Original amino acids: methionine,
- New function (could be
alanine, proline
good or bad).
New amino acids: methionine,
valine, proline.
Frameshift If a base is inserted or deleted in a May result in different amino acids
point mutation, it creates a being translated, which results in an
frameshift. incorrect protein structure, may not
function currently.
Since codons are read in sets of
three, adding or deleting a base
shift the point of reference, now
different codons are read.
Original: GCU GCC GCA GCG
Insertion: GCU GCC AGCA GCG
Frameshift: GCU GCC AGC AGC G
Non-disjunction Sister chromatids in a homologous Extra or missing chromosomes may
pair of chromosomes fail to affect the growth and functioning of
separate correctly during cell the body (e.g. down syndrome,
division, resulting in cells with an intersex conditions).
incorrect number of
chromosomes. Can happen during
meiosis, affecting the sex cells and
therefore affecting the offspring
only (e.g. down syndrome,
intersex conditions). Or during
mitosis, affecting the somatic cells
therefore affecting the organism
(e.g. mosaic down syndrome).
Types of Mutagens: write examples next to each type.
Physical: Radiation (e.g. UV, x-rays, electromagnetic radiation)
Chemical: Man-made chemicals (e.g. pesticides, chemicals in cigarettes and vapes)
Biological: Living things like viruses and bacteria that insert their
own DNA into the human genome, for example, HPV (Human
papillomavirus infection) causes cervical cancer
What is a karyotype? What are they used for?
Aneuploidy: Means the cell down not contain the right number of chromosomes
Monosomy: Means a chromosome is missing (mono = 1, i.e. 1 in a pair instead of 2)
Trisomy: Means there is an extra chromosome (tri = 3, i.e. 3 in a pair instead of 2)
Mosaicism
Mosaic: an organism composed of cells of two genetically different types due to mitosis non-
disjunction during embryo development
In mosaic variegated aneuploidy, the extra or missing copy of a chromosome is not present in all
cells of the body.
People with mosaicism have the same symptoms as people with complete aneuploidy but less
severe.
Severity varies between people with mosaicism depending on the percentage of cells affected, which
is determined by how early embryotic development non-disjunction occurred.
Earlier it happens, worse down syndrome is.
Good and Bad
All alleles (gene variations) resulted from mutation. Mutations can be good or bad – the variation in protein structure
mutations cause can change its function for better or for worse. Genetic variation gives natural selection something to act
on.
- Positive mutations – allele frequency increases.
- Neutral mutations – allele frequency varies.
- Negative mutations – allele frequency decreases but can remain in low amounts due to being recessive.
