Term
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Definition
* ends of dsDNA formed by cutting between same base pair
* no overhangs |
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Term
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Definition
| A point mutation that changes a normal(wild type) allele into a mutant allele. |
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Term
| Reverse Mutation (2 kinds) |
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Definition
true reversion
partial reversion |
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Term
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Definition
| replaces mutant with wild type amino acid |
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Term
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Definition
| replaces mutant with another amino acid. Complete or partial function restored |
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Term
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Definition
* staggered cuts from restricion enzymes
* with 5' overhang or 3' overhang
* can use to bp back together to make recombinant DNA (cloning) |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| occur in body cells; affect individual only |
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Term
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Definition
| occur in gametes/ affect next generation |
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Term
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Definition
*changes in chromosome number or chromosome structure
* can occur spontaneously or they can be induced by treatment with chemicals or radiation. |
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Term
| Chromosomal Structure Mutation (Duplication) |
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Definition
* results in the doubling of a segment of a chromosome
* ABCD --> ABCBCD |
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Term
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Definition
*Same sequence backwards and forwards.
*Across from one another in DNA |
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Term
| Chromosomal Structure Mutation (Translocation) |
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Definition
| * piece of 1 chromosome breaks off and joins another (nonhomologous) chromosome |
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Term
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Definition
| different codon, same amino acid |
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Term
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Definition
| different codon, different amino acid |
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Term
| Chromosomal Structure Mutation ( Inversion) |
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Definition
* piece of DNA breaks, flips and reattaches to same chromosome
ABCD --> ADCB (upside-down letters) |
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Term
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Definition
| different codon, similar (not the same) amino acid |
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Term
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Definition
| sense codon, stop codon; truncates protein; not good |
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Term
| Chromosome structure mutation ( Deletion) |
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Definition
* a chromosomal mutation in which part of a chromosome is lost
* starts with a break in a chromosome
ABCD --> ABC |
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Term
| Chromosomal number Mutation (Aneuploidy) |
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Definition
* has a chromosome number that is not an exact multiple of the haploid set of chromosomes
* 2N-2 = Nullisomy
* 2N-1 = Monosomy
* 2N+1 = Trisomy
* 2N+2 = Tetrasomy |
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Term
| Chromosome number mutation ( Polyploidy) |
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Definition
* more than the normal set of chromosomes
*E.g. 2N, 3N, 4N, 5N
* Whole sets |
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Term
| Chemical Mutagens (Base Analogs) |
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Definition
* Can shift into unusual tautomers
* Messes up H-Bonding between bp's
* Pretend-Base |
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Term
| Chemical Mutagens (Intercalating agents) |
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Definition
* tends to cause insertion of 1 or more bases
*EtBr
*Resembles pu-py pairs
* Interferes with Topoisomerases II action
* Leaves a nick > insertion
* Incorporated/ inserts self into DNA |
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Term
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Definition
* Genetically engineered mouse with one or more genes turned off
* will have issues in the wild |
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Term
| Chemical Mutagens (Base modifying agents) |
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Definition
* messes up base-pairing properties or H bonding
* Eg: Hydroxylating agents, Alkylating agents, and Deaminating agents |
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Term
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Definition
* a base modifying factor
* ADDS -OH |
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Term
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Definition
* a base modifying factor
* ADD -CH3 |
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Term
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Definition
* a base modifying factor
* REMOVES -NH3 |
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Term
| Restriction Endonucleases |
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Definition
| Cut dsDNA at recognition site |
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Term
| 2 Types of Suppressor mutations |
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Definition
INTRAGENIC
INTERGENIC MUTATIONS. |
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Term
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Definition
| occurs within the same gene in which the original mutation occured but in a different site |
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Term
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Definition
| occurs in a different gene. |
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Term
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Definition
| Enables transformed cells with plasmid to live on antibiotic |
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Term
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Definition
Origin of DNA replication,
allows for replication. |
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Term
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Definition
2nd site mutation
A mutation at a different site from that of the original mutation. |
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Term
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Definition
*backspace button on polymerase activity
*includes 3'-5' exonulclease activity |
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Term
| Base-pair substitutions (2 kinds) |
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Definition
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Term
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Definition
*sloppy repair
*in bacteria
*uses lexA and recA genes |
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Term
| Restriction Recognition Site |
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Definition
*Recognized by restriction emzymes
*usually palindroms
*cuts by restriction enzyme |
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Term
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Definition
1) isolate cloning vector & human DNA
2)insert cut human DNA + DNA ligase into plasmid to make recombinant DNA
3)put plasmisd into bacteria by transformation or electroporation
4) clone cells
5) find the cloned cells we want |
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Term
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Definition
- used to amplify foreign DNA
- plasmid cloning vectors need:
* oriC - to get replication started
* polylinker region - to provide choice of cloning sites
* selective marker - forces cell to keep vector (i.e. antibiotic resistance) |
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Term
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Definition
- thymine dimers
- caused by UV radiation: reversed by photoreactivation
- 2 thymines crosslink and bond
- creates a bulge in DNA
- replication stops
- cell can die |
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Term
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Definition
Nucleotide excision repair - also known as dark repair
- base excision repair mechanism
- protein scans DNA - when it finds a dimer or distortion it cuts it out
- DNA polymerase fills in correct sequence
- DNA ligase joins the ends |
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Term
| Physical Mutagens (2 Kinds) |
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Definition
| - ionizing radiation, UV rays |
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Term
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Definition
| section of chromorome broken away then reattached to the chromosome in opposite orientation. |
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Term
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Definition
| changes amino acid sequence from the site of the mutation. |
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Term
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Definition
| piece of DNA that is abnormally copied one or more times. |
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Term
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Definition
| addition of one or more necleotide base pairs into DNA sequence. |
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Term
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Definition
part of chromosome or a sequence of DNA is missing.
Original
------------------------------
C A T C A T C A T C A T
After Deletion
------------------------------
C A T C A T C T C A T |
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Term
Frequency
( mutation quantified) |
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Definition
proportional number per cell
OR
individuals in population |
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Term
RATE
(mutations quantified) |
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Definition
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Term
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Definition
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Term
| Causes to spontaneous Mutations |
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Definition
1.) errors during DNA replication
2.) movement of transposon
3.) chemical changes |
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Term
| Fact of spontaneous mutations |
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Definition
| most mutations are spontaneous |
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Term
Phenotype Effects
(mutation classification) |
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Definition
~ forward mutations
~ reverse mutations
~ suppressor mutations |
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Term
| Methods of corrections for spontaneous mutations |
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Definition
~ immediate proofreading during DNA repication
~ cellular repair systems |
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Term
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Definition
| change the chemical structure of bonds; create TT dimers; many dimers in a row stop replication and can cause cell death. A physical mutagen |
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Term
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Definition
| high energy, creates oxygen radicals which break covalent bonds, responsible for many physical mutations |
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Term
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Definition
one purine-pyrimidine bp to the other purine pyrimidine bp, i.e AT to CG
(4 total) |
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Term
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Definition
purine-pyrimidine bp to a pyrimidine-purine base pair (i.e. AT to TA or to CG)
(8 total) |
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Term
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Definition
| Using a probe to fish for and stick to matching molecules |
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Term
| Insertion Sequence vs Transposons |
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Definition
IS- very simple, inverted terminal repeats, found in prokaryotes, cause mutations when inserted, only has genes necessary for insertion.
Tn - also has genes for insertion, more complex and has extra genes (antibiotic resistance) |
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Term
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Definition
| Cannot transpose alone because it's missing the transposase gene. When inserted, causes stable mutations. Stuck inside the cell |
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