Mutations Flashcards
Somatic mutations
an occur in any of the
cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children.
*Will not be found in all cells of the body in which the somatic mutation occurred. The mutation is only found in that cell and any other cells from that cell lineage.
*May or may not cause a phenotypic change in that cell lineage (tissue or organ).
Germline mutations
occur during meiosis
in germ cells and can be passed on to
offspring.
Germline mutations –occur during meiosis
in germ cells and can be passed on to
offspring.
* When passed on, the mutation will then exist in all cells of the offspring.
* May or may not cause a phenotypic change in the offspring.
Three types of impact on organisms:
- Beneficial – increase the fitness of the organism in certain environments
- Neutral – has no effect on fitness
- Deleterious – lowers the fitness of the organism
Point mutation: Transitions
a pyridimine is changed to another pyridimine or purine to purine.
Point mutation: Transversions
a pyridimine is changed to a purine or vice versa.
Silent mutation
change in nucleotide sequence that does not change amino acid specified by codon.
Missense mutation
change in nucleotide sequence that changes amino acid specified by codon.
Nonsense mutation
change in nuceotide that results in early stop code.
Frameshift mutation
addition or deletion of a nucelotide.
What causes mutations?
Spontaneous mutations
Environmental and Chemical Mutagens
Chromosome structure changes: mutations
*Duplications
*Deletions
*Inversions (pericentric or paracentric)
*Translocations (interchromosomal vs intrachromosomal and reciprocal vs
non-reciprocal)