1. Fundamental Molecular Biology Flashcards
What is a mutation?
A change in the nucleotide sequence of a gene or a chromosome.
When is a mutation heritable?
When it arises in the germ line cells.
When is a mutation not heritable?
When it arises in the Soma.
What is the Soma?
The part of an organism other than the reproductive cells.
What is the Germ line?
Reproductive cells that are passed onto the next generation.
What does evolution require?
Genetic variation generated by sex and by spontaneous mutation.
What can cause mutation rate to increase?
Increasing amount of DNA damage.
Decreased rate of repair.
How can mutations be induced?
With chemical mutagens or radiation.
What is a silent point mutation?
The change has no effect on the protein produced.
What is a nonsense point mutation?
When a protein code is changed to a Stop codon.
What is a missense point mutation?
The change causes a different protein to be produced.
What is a frame-shift Mutation?
Addition or subtraction of a single base pair which causes the whole sequence to change.
What is a phenotype?
The outward, physical manifestation of the organism that is coded for by the genotype and influenced by the environment.
What is a genotype?
Stored information in genes and DNA that is used as a blueprint for building and maintaining a living creature.
Why are most mutations recessive?
Because it is easier to damage DNA than make it work better or differently.
What is meant by ‘gain of function’ mutation?
Either getting more of a normal function or gaining a new function.
When is it possible to carry a homozygous lethal mutation?
Only possible in late showing mutations.
How much does coding RNA make up of the total RNA count?
4%
What is an Ortholog?
A homologous gene that is related to those in different organisms by descent from a common ancestors DNA.
What is a Paralog?
Gene related by duplication within a genome.
What are Indels?
Insertions / Deletions.
What are SNP’s?
(Single Nucleotide Polymorphisms) are the most common type of genetic variation among people. Each SNP represents a difference in a single nucleotide.
What do SNP’s show us?
SNP’s show us that a point mutation has persisted in the population.
How should allele frequencies be expressed?
As decimals.
What does the Hardy-Weinberg Equilibrium predict?
That genotype frequencies in a population will remain constant from one generation to the next if there is no evolution occurring.
