Mutations Flashcards
What is mutation?
a permanent change in the genetic material of an organism
What are the effects of mutation?
Mutations can be neutral
(neither positive nor
negative consequences)
neither beneficial nor
detrimental to the ability of
an organism to survive and
reproduce
An example of genome mutation aneuploidy
Aneuploidy caused by an excess or
deficiency of chromosomes. Down
syndrome (Trisomy 21) is caused by an
extra copy of a chromosome, but no
individual gene (in most cases) on the
chromosome is abnormal.
Chromosome mutations / abnormalities
Rearrangement of genetic material
Single gene mutation
Mutation caused by mistake in a single gene e.g sickle cell, cystic fibrosis, epidermolysis
Multi factorial inheritance disorders
Most disorders involve genetic factors such as heart disease
What is a gene mutation and what are some factors that can cause gene mutation
Gene mutation is when the specific sequences of a gene changes
- viruses
- cigarette smoke
- alcohol
-radiation
- chemicals and uv
Gene mutation and heritability
All mutations are heritable so they will be copied during DNA replication
Not all mutation will be passed on to future generations, only changes that affect the genetic information contained in the reproductive cells of an organism called germ cell mutations will be passed on
Name the 5 types of chromosome mutations
Deletion, substitution, inversion, duplication and translocation