Gene Mutations Flashcards
Point Mutations
Alterations of a single or a few base pairs.
Silent mutations
A change that does not affect the amino acid sequence.
Conservative Substituitions
Mutations that may change the amino acid sequence, but the replacement and the original amino acid have similar biochemical properties, and the change will not drastically affect protein function.
Non-conservative Substituitions
Mutations that result in the replacement of an amino acid with a biochemically different amino acid, which changes the biochemical nature of the protein.
Nonsense Substituitions
Mutations that terminate proteins prematurely when a nucleotide substitution produces a stop codon instead an amino acid codon.
Antigen Retreival
Treatment that can uncover antigen epitopes. It allows an antibody to access the target protein within the tissue. Enzyme digestion with protein-digesting enzymes or heating tissue sections in water or buffer.
Cryostat
An instrument that allows cutting of frozen tissue into 4- to 15-micron sections inside a chamber held at -20C.
HPLC
High Performance Liquid Chromatography. The basis for separation and analysis instruments such as amino acid analyzers.
Isocratic
Organic solvent in the mobile phase in chromatography that may be the same throughout the column.
SSCP
Single-Strand Conformation Polymorphism. Hybridization based method. A method designed to detect sequence alterations in DNA through differences in secondary structure due to differences in the nucleotide sequence.
Conformer
A three dimensional structure formed by folding and intrastrand hybridization of a single strand of nucleic acid.
Melt Curve Analysis
MCA. Post-amplification step of RT-PCR. Mutation or polymorphism scanning based on changes in hybridization temperature.
Homoduplexes
dsDNA in which the component strands are completely complementary.
Heteroduplex Analysis
HDA. Detection of sequence differences by denaturation and renaturation of test and reference ds nucleic acids, forming heteroduplexes where test sequences differ from reference sequences.
Standard Tiling
Design of probes on an array such that the mutation site is always in the same position from the end of the probe.
Redundant Tiling
Design of probes on an array such that a predictable mutation is located at different places in the probe sequence.
Bead Array
Probes attached to a fluorescence-labeled beads.
SSP-PCR
Sequence-specific (primer) PCR. Detects point mutations and other SNPs in DNA with primers designed so that the 3’ -most base of the primer hybridizes to the test nucleotide position in the template.
NIRCA
Nonisotopic RNase cleavage assay. Heteroduplex analysis using duplex RNA. A mutation or polymorphism screening and amplification method using RNase cleavage of heteroduplexes.
