A change in base sequence of chromosomes. This can arise spontaneously during DNA replication.
Define Base substitution
A silent mutation occurs when substitution of a base still codes for the same amino acid as the original base(due to degenerate nature of the genetic code). This has no effect on the final polypeptide.
Define Missense Mutations
Substitution where one amino acid can be changed to another due to the substitution of a new base.
Why can missense mutations have very little effect on a protein?
A new amino acid may be similar to the old amino acid or the missense mutation may be in a region when the function of protein is not affected.
What serve effects can a missense mutation cause?
It can affect the tertiary structure.
What is Non-sense mutation?
A mutation where the substitution of a base sequence leads to a stop codon.
Examples of stop codons
UAA, UAG, UGA
What does a non-sense mutation result in?
A short polypeptide (The protein would not be able to function properly)
What do insertions and deletions result in ?
Leads to a frameshift (the entire aminoacid sequence will be different) and may lead to prematuretermination.
Give examples of mutagenic Agents
X-rays and gamma rays, UV light , and certain chemicals e.g. tobacco or alcohol.
What is a mutagenic Agent?
Factors that can increase the frequency/rate of gene mutations
What changes in chromosome mutations?
The structure or number of chromosomes
What is a polyploidy (chromosome mutation mostly found in plants)
Changes in the whole set of chromosomes. 3 or more sets of chromosomes rather than 2 sets.
What happens during meiosis 1 ?
homologous chromosomes separate (reduction division - reduction of number of chromosomes to half the normal number)
What happens during meiosis 2 ?
Sister chromatids are separated similar to mitosis ( Mitosis style)
During meiosis 1 , prophase 1 occurs. What happens during prophase 1?
When homologous chromosome pair up, foursomes (with their duplicated arms) are called tetrad or a bivalent.
Where does crossing over occur during meiosis
It occurs at chiasmata. Chiasmata is the positions at which non-sister chromatids appear joined together.
Prophase 1
The non-sister chromatids of the homologous pair swap/ exchange segments or alleles. The segments that get swapped represent different alleles. This leads to new combinations of chromosomes called recombinants (new sequence of genes).
Sister chromatids cannot cross over during prophase 1 as they have the same genetic information although they may have different alleles. These arms that did not cross over are called recombinants.
Give 2 ways in which meiosis produces genetic variation
Crossing over during meiosis 1. Independent assortment ( random segregation of homologous chromosomes and sister chromatids.