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Artificial Selection
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Purposeful matings to keep scientific wanted traits for generations
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Belyaev
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1950s. Domesticated foxes were selected and bred. Argressive vs domesticated foxes.
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Gregor Mendel
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1822-1884. Experimented with pea plants and is known as the father of genetics
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phenotype
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observable characteristics
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genotype
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genetic make up
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Monohybrid cross
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matings between individuals that differ in one trait
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Alelles
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An alternative form of a single gene
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Genes
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Discrete units of alleles
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Polymorphic
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The existance of two or more variants in a population of individuals, with at least two of the variants having frequencies greater than 1%
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Monomorphic
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Genes that have only one allele that is normally present in a population
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Law of Segregation
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Two alleles for each trait are seperated during gamete formation. Then, unite at random, one from each parent at fertilization
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SBE1
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Enzyme responsible for starch branching. Creates wrinkled peas and smooth peas
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Test Cross
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Unknwon genotype crossed with homozygous recessive to determine the genotype of the unknown
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Law of Product
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The probability of two or more independent events occuring together is the product of the probabilities that each event will occur by itself.
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Heterozygote Cross
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phenotypic ratio of 3:1
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The Law of Sum
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The probability of either of two mutually exculsie events occuring is the sum of their individual probabilities
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Dihybrid Cross
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Two trait cross; phenotypic ratio of 9:3:3:1
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Thomas Hunt Morgan
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Experimented with Drosophila and discovered that the gene for eye colour is on the X chromosome. Also discovered chiasmata were recombination occurs.
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Creighton and McClintock
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Studied Corn
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A.H Sturtevant
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Proposed that % recombination or RF could be used as a gauge of the physical distance between any two genes on the same chromosome
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Prokaryotic Promoter Regions
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-35 region and -10 region
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RNA Polymerase
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Two alpha and 2 beta components. Sigma factor allows it to bind to promoter region
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Monod and Jacob
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1950s studied E.coli lactose utilization mutants
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Polycistronic mRNA
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One mRNA with 2 or more transcribed genes on it
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Operon
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A unit of DNA composed of specific genes, plus a promoter and operator that allows regulation if there are environmental changes
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Constitutive mutants
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Always result in protein sysnthesis, irrespective of environmental conditions
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Corynebacterium diphtheriae
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Toxin is repressed when the repressor and iron form together to create an inhibitor to block RNA polymerase
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Diphtheria toxin
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Stops the transfer of growing polypeptide chains from A site to P site of ribosomes. Ultmatley results in cell death.
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Cap sequences
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Eukaryotes only. Binding site for ribosome subunits to allow translation
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Cis-factors in transcription
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Enhancers and promoter close to initiation site
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Trans-factors in transcription
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Proteins roduced during transcription bind to enhance or block transcription
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Core promoter
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Close to the genes coding region. Includes iniitation site where transcription begins
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TATA box
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In eukaryotes that contain a sequence of thynines and adenines that is located at a -30 position
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CAAT box
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-75 to -100 base pairs. Type of cis promoter element
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Enhancer
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Regulatory site that can be located far away from the core promoter, or can be quite close
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Basal factors
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bind to the promoter to maintain a basal level of transcription.
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TBP (TATA box Binding protein)
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Essential to the initiation of transcriptioon from all class II genes with a TATA box
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TAFs
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TBP associated factors
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Transcription activators
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bind to enhance sequences and can increase transcription aboe the basal level
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Activators
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Proteins bind to genes at sites known as enhancers and speed up the rate of transcription
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Repressors
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Proteins bind to selected sites called silencers and slows transcription
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Coactivators
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"Adapter" molecules that intergrate signals from activators and perhaps repressors
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Basal Transcription Factors
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In respnse to injunctions from activators, these factors position RNA polymerase at the start of transcription
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Homodimers
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Multimeric proteins composed of identical subunits
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Heterodimers
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Multimeric proteins composed of nonidentical subunits
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Steroids
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Work at the level of coactivation of transcription factors (activators) by creating a reversable allosteric effect, causing a conformational change to bind to enhancer
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Horomone Steriods Receptors
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ex glucocorticoid receptor. Always a zinc-finger transcription factor
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Competition
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The repressor binds to the enhancer to block the binding of an activator
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Quenching type 1
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Repressor binds and blcks the DNA binding region of an activator. The binding domain is blocked and unable to bind to enhancer
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Quenching type 2
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Repressor binds and blocks theactivation domain of an actiator. But the activator is unable to bind to the enhancer
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Chromatin
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Eukaryotic DNA that is wrapped around histone proteins to form units of nucleosomes. This causes the genes to be turned off so that transcription is very low or non-existant in individual genes
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Histone
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Positively charged
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DNA
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Negatively charged
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Methylated genes
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tightly wrapped, not accessible. No transcription
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Acetyl group genes
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Histone tails reduce electrical attraction to DNA causing repulsion. It unwraps the DNA from the histone to expose the gene
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Heterochromatin
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Highly condensed DNA
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Epigenome
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Methylation attaches to DNA to turn off gene
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Phenotype frequency
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the proportion of individuals in a population that are of a particular phenotype
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Allele frequency
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The proportion of all copies of the gene in a population that are given allele type
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Genotype frequency
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The proportion of individuals in a population that are of a particular genotype
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Hardy-Weinberg Law
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Defines the relationships between genotype and allele frequencies within a generation and from one generation to the next
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Hardy-Weinberg Equilibrium
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Hypothetical populations that satisfy all five assumptions
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Genetic drift
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Unpredictable, chance fluxations in allele frequency that have no effect on survival
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Genetic natural selection
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interactions between genetically determined phenotypes and environmental conditions that cause differential reproduction of certain genotypes
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Fitness
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An individual's relative ability to survive and transmit its genes to the next generation. Two basic components: viability and reproductive success. Measured by number of offspring
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Natural Selection
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The process that progressiely eliminates individuals whose fitness is low and chooses individuals of high fitness to survive and become the parents of the next generation
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Relative Fitness
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Ranges from 0 to 1. Used to calculate the realitive fitness for a gien genotype
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Heterozygous advantage
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Sometimes heterozygots have a higher fitness than either homozygotes
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Polymorphic gene
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More than one wildtype allele can exist of a gene
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Transition
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Switch purine with another purine, or pyrimidine to another pyrimidine
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Transversion
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purine switches with pyrimidine. Can occur with oxidation
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Inversion
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break off and the 3 prime and 5 prime switch ends. Flipping. Half circle 180 degree rotation of a chromosomal region that can occur following two double stranded breaks
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Reciprocal translocation
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Part of the chromosome has been replaced with a region from ANOTHER chromosome and vice versa. Changing places
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Luria and Delbruk
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1943 Used E.coli and bacteriophage T1 to test hypothesis regarding the mechanisms responsible for the appearence of a new phenotype
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Lamarck
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Theory of evolutuon through aquired traits
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Mutagens
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Physical or chemical agrent that raises the frequency of mutations above the spontaneous rate
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Depurination
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A purine (A or G) is removed from the deoxyribose sugar by hydrolysis. A OH group remains on the backbone. Deamination with NO changes the amino group to a carboxyl group and changes the type of purine or pyrimidine
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T dimers
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Carbons from both thymines that are adjacent to one another + UV light to create a kink in DNA. This is a covalent bond that prevents replication by DNA polymerase
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Xeroderma pigmentosium
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Autosomal recessive trait that causes an inactivation in endonucleases. Excision repair is not able to occur
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Proodreading
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DNA polymerase I and III has a 3 prime to 5 prime exonuclease activity that can recognize and remove misparied bases during synthesis
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Unequal crossing over
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Results in a duplication and deletion
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Gene Dosage
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The number of times a given gene is present in the gene
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Duplications
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Increase the copy number of a particular chromosomal region (more than 2 protein products)
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Tandem duplications
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Lie adjacent to eachother, either in the same order or reverse order
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Nontandem duplications
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two or more copies of a region that are not adjacent to eachother and may lie farther apart on the choromosome or different chromosomes
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Fragile X syndrome
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Large number of duplications of a CGG repeat on the end of the X chromosome. As a result, does not wrap up properly causing polymerase to slip during translation
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Paracentric Inversion
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Exclude the centromere
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Pericentric Inversion
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Include the centromere. Acrocentric to metacentric
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Translocation
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Large scale choromosomal rearragnements in which part of one chromosome becomes attached to another chromosome or parts of two different chromosomes trade places
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Reciprocal transloaction
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Parts of two different chromosomes trade places
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Robertsonian translocation
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reciprocral translocations arising from breaks at or near the centromeres to two acrocentric chromosomes. Results in one large and one small chromosome. The small chromosome may be lost
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Non-reciprocal translocation
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unequal exchanges between chromosomes where part of one chromosome moves to a different chromosome
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DNA probes
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Short single straded DNA of known composition that are labelled with 32P or fluorescent dyes
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Mullis
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Created PCR by using artificial Xeroxing
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PCR
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Using oligonucleiotides to flank sequence of intrest. Taq polymerase extends DNA
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Sanger dideoxy sequencing
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based on lack of 3 prime group to terminate chain elongation. ddT bonds with A sequences to form various lengths of DNA fragments
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