The Structure of the Genome and Mutations Flashcards
Splice-site mutations
Change affecting nucleotide(s) at a site where introns are normally removed from a primary mRNA transcript.
Phenotype
Physical and biochemical characteristics of an organism resulting from the expression of its genes.
Point mutation
Term referring to a change in one of the base pairs in the DNA sequence of a single gene.
Deletion
Gene mutation involving the loss of one nucleotide from the DNA sequence.
Insertion
Gene mutation involving the addition of an extra nucleotide to the DNA sequence.
Regular sequence
Non-coding sequence of DNA bearing activators needed to promote transcription of a gene.
Mutant
Individual whose genotype expresses a mutation.
Substitution
Gene mutation involving the exchange of one nucleotide for another in the DNA sequence.
Gene
Sequence of DNA bases that code for a protein.
Non-coding sequence
General name for a region of DNA that does not code for a protein.
Mutation
General term for a random change in an organism’s genome.
Genome
An organism’s entire genetic information encoded in the DNA of a complete set of its chromosomes.
Telomere
Protective region of repeated DNA sequences found at the end of a chromosome.
Duplication
Doubling up of part of a chromosome involving several genes.
Chromosome structure mutation
General term referring to a change that alters the number or sequence of the genes in a chromosome.
