Lecture 1 Flashcards
mutations etc.
Missense
A mutation that changes a codon specific for one amino acid to specify another amino acid
Nonsense
Point mutations in a DNA sequence that cause the replacement of the normal codon for an amino acid by one of the three stop codons
Mutation
Any change in a DNA sequence of a cell
Polymorphism
The presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or populations
Variant
Other versions of the gene that vary
Deletion
The loss of one or more nucleotides from a segment of DNA
Duplication
type of mutation in which one or more copies of a DNA segment is produced
Insertion
the addition of one or more nucleotides into a segment of DNA
Promoter
region of DNA upstream of a gene where relevant proteinsbind to initiate transcription of that gene
Intron
non-coding region within a gene but does not remain in the final mature mRNA (does not code for AA)
Exon
coding region; segments of genes that ultimately determine the amino acid sequence of the protein
Termination codon
A sequence of 3 nucleotides in DNA or mRNA that signals a halt to protein synthesis in the cell
Frameshift
the insertion or deletion of nulceotide bases in numbers that are not multiples of 3
Splice site
Genetic alteration in the DNA sequence that occurs at the boundary of an exxon and an intron
Gain of function
Mutations that increase the production of a normal protein; mutations that enhance one normal function of a protein
