Mutation Test Flashcards
Point Mutations
occurs within the protein coding region of a gene classified by the effected on the resulting protein.
Transition
Exchanges a purine for a purine (A<—>G) or a pyrimidine for a pyrimidine (C<—>T)
Transversion
Less common, exchanges a purine for a pyrimidine or a pyrimidine for a purine (C/T<—>A/G)
Types of Point Mutations
Silent- Mutated codons codes for the same amino acid.
Missense- Mutated codons.
codes for a different amino acid
Nonsense- Mutated codons is a premature stop codon.
Reading Frame
A three base frame that seperates the bases into codons.
Deletion
Remove one or more nucleotide from the same DNA.
Insertion
Add one or more nucleotide from the same DNA.
Splice site mutation
Mutations in the coding region of a gene may also alter the splicing of the mRNA.
Frameshift mutation
Mutations which alter the reading Frame.
Homeostasis
the ability to maintain a relatively stable internal state that persists despite changes in the world outside.
Loss of function Mutation
result in a gene product or protein having less or no function
Null Allele
has a complete loss of function.
Haploinsufficiency
when a rudust dosage of a normal gene product
Gain of function
a gene product or protein having a new and abnormal function and usually result in a dominant phenotype
Dominant Negative
An altered product that acts in a dominant mutter to the wild type gene product in the same cell
DNA Repair
refers to a collection of processes by which a cell identifies and corrects damage to DNA
DNA mismatch repair
A system for recognizing and repairing erroneous insertion, deletion and miss-incorporation
MutH
cuts the DNA strand near the closest mentholated site to the mismatch
MutSHL
Slides along the DNA in the direction of the mismatch
Nucleotide extension repair
removes the vast majority of uv-induced DNA damage.
Global Genomic NER
repairs damage in both transcribed and untranscribed DNA strand in active and inactive genes.
Transcribed-coupled NER
a faster process of global genomic NER.
Base Excision repair
repairs small, non helix distorting changes in the DNA
Gene Pool
The combination of all genes (including alleles) present in a reproducing population in other species