When dominant alleles are together on the same copy of each chromosome in a homologous pair. Works the same for recessive
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Linkage through repulsion
When different alleles, dominant and recessive are together on the same chromosome of a homologous pair
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Linkage groups
Series of genes that are linked
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Linked Genes
Genes that are inherited together
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Interference
When one recombination event affects the presence of another
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STR
Short tandem repeats
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Recessive non-wildtype
When the organism needs one wild type allele in order to be expressed
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Dominant non-wildtype
When the organism needs 2 wildtype alleles to be expressed
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Haploinsufficiency
One wild type copy is not enough
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Incomplete Dominance
Intermediate phenotype 1:2:1 where heterozygote is intermediate of the 2 phenotypes
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Codominance
When both alleles are expressed in the heterozygote, 1:2:1 ratio. Example of this is blood typing
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Lethal Alleles
Recessive allele's that cause death during embryonic development. Can't be dominant because the allele's wouldn't be able to be passed onto offspring
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Pleiotropy
Single gene affects numerous seemingly unrelated genes
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Penetrance
Percentage of individuals with a genotype that express the related phenotypes
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Expressivity
The degree to which a phenotype is expressed
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Sex influenced trait
When one sex shows a higher degree of trait expression or higher incidence
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Sex limited trait
Genotype is only expressed in one sex despite being autosomal
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Environmentally dependent/conditional phenotype
Where the genotype causes the individual to be more susceptible to producing a phenotype when exposed to an environmental cue.
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Heterogenic Trait
Where alleles in any one of many genes causes a phenotyppe
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Complementation test
A cross between 2 mutant phenotype individuals to see if they express that phenotype because of mutations in the same gene.
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Complementation occurs in a complementation cross
Alleles are in different genes and offspring are wild-type (Different from mutant parents)
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No complementation occurs in complementation cross
Alleles are in the same gene and offspring are mutants like parents
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Polygenic traits
Traits affected by many genes
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Novel Phenotypes
Two genes each affecting the same trait. They act independently
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Epistasis
2 genes interact and affect the presense of another
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Recessive epistasis
Recessive genotype at one locus always always produces the same phenotype regardless of second locus.
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Recessive Epistasis Ratio
9:3:4
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Dominant Epistasis
Dominant genotype at one locus produces the same phenotype regardless of the second locus.
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Dominant epistasis ratio
12:3:1
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Duplicate Dominant Epistasis
Recessive genotype at EITHER locus produces the same phenotype
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Duplicate Dominant Epistasis Ratio
9:7
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Duplicate Recessive Epistasis
Dominant genotype at either locus produces the same phenotype
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Duplicate Recessive Epistasis Ratio
15:1
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Concordance
Proportion of twin sets in range from 0-1
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Higher concordance in monozygotic twins
Possess genetic basis
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Nontemplate/Coding/Sense Strand
Strand not use as a template for RNA production
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Template/Anticoding/Nonsense
Used to make RNA
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Components of the transcription unit
Transcriptional start site, RNA coding region, Transcription termination site
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Initiation Stage
Promoter induces transcription.
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Promoter in Bacteria
-10 and -35 Motif
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Holoenzyme
Bind to promoter to form replication bubble
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Sigma
Makes binding specific to promoter sequence. Distinguishes promoter
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Core Enzyme
RNA polymerase
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Elongation Stage
RNA polymerase polymerizes slowly without error correction while Sigma is released
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Termination in Bacteria
Formation of a hairpin that physically blocks our RNA polymerase causing hybrid strand to separate
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Rho-Dependent Termination
Rho binds to RNA and moves upstrand to hybrid to form a hairpin near the hybrid. Rho uses helicase activity to break the strand to release RNA
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Rho Independent Termination
Hairpin forms in G-C dense regions while U-A dense regions in the hybrid are weak and eventually separate
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Eukaryotic Core Promoter
Multiple consensus sequences. TATA box is most common
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Most Common RNA polymerase that encodes for translation
RNA Polymerase II
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Basal Transcription Factors
Bind polymerase to core promoters, similar to sigma in Prokaryotes.
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Non-coding RNA
RNA that has been transcribed but will not be translated
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Post transcription in Eukaryotes vs Prokaryotes
Prokaryotes immediately move on to translation meaning translation and transcription occur at the same time Eukaryotic transcription is in nucleus while translation is in the cytoplasm. Modifications must be made to stabilize and export to cytoplasm
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5' Cap
Guanine Triphosphate nucleoside in reverse orientation to triphosphate nucleoside in the first position of the transcribed pre-mRNA. Bond is then methylated. Increases stability and improves transcription efficiency.
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3' Poly-A Tail
50-250 adenines to 3' end in order to stabilize mRNA. Positions ribosome along with 5' cap. Signals for export to the nucleus
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Rat1
Digestive Enzyme that binds at 5' end on cleavage site to the RNA to stop transcription
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mRNA Splicing
Removal of introns that interrupt coding sequence and must be removed to make mRNA mature.
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Spliceosome
Proteins that bind at the splice sites in an intron, fold RNA, and cut intron off.
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Alternative splicing
Keeping different exon combinations from the same gene to form different products.
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Isoforms
Different protein products translated from alternative splicing.
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Trans-splicing
Single mature mRNA is made of exons of more than one primary RNA
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Degenerate Code
Amino acids that can be coded by numerous codons
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Transfer RNA (tRNA)
Complementary to mRNA codons by using anticodon pairs to carry amino acids to attachment sites
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Aminoacyl-tRNA synthetase
Loads amino acids onto correct tRNA
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Wobble
Nonspecific pairing at third position on codon because there are enough tRNA's for each codon
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Shine Dalgarno Sequence
Start site of translation that is complimentary to rRNA component of the small subunit and allows a start codon to be conditioned directly.
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Ribosome Subunites
Large Subunit: 50s Small Subunit: 30s
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Initiation Factor 2
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Step 1 of Elongation
Charged tRNA delivered to A site
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Step 2 of Elongation
Creation of peptide bond between amino acids in A and P site, releasing the amino acid from the tRNA in the P position
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Step 3 of Elongation
Translocation of the ribosome down stream 5' to 3' and A to P
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E position
Exit point of tRNA
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A Position
First position where tRNA is delivered
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P Position
Where amino acid is released and where peptide bonds and chains form
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Termination of translation
Stop codon in position A causes a release factor to bind instead of a tRNA causing nothing to attach to the polypeptide chain.
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Do eukaryotes have shine dalgarno?
No
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Eukaryotic Translation promotion
5' cap and 3' tail orient mRNA so that small subunit of ribosome begins at the 5' end. Ribosome assembly of large and small subunit once an AUG start codon is found in Kozak sequence.
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Antibody Staining
Identify whether a particular protein is present in the cells of a tissue.
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Proteomics
Extraction and categorization of proteins. Compares it to expressive proteins that may be produced.
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Germ Line Cells
Lines of cells set aside during embryotic development so that it minimizes the mutations can be passed down to the gametes
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De Novo
Occurrence of a mutation in germ line cells. May cause phenotypic affects on offspring that parents do not present.
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Point Mutation
SNPs or INDELs that affect one or a few nucleotides
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Chromosomal Mutations
Can affect multiple genes or an entire chromsome
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Nucleotide Mutations
Effect on DNA sequence level
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Amino Acid Mutations
Effect on transcription or translation
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Substitution Mutations
Change in nucleotide sequence that does not affect nucleotide length
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Transitions
Purine to Purine and Pyrimidine to Pyrimidine
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Transversions
Purine to Pyrimidine or Vise Versa
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INDELs
Addition or removal of a nucleotide. This actually affects length of sequence
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Silent Mutation/Synonymous Mutation
Nucleotide alteration that has no affect on amino acid sequence due to degeneracy
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Missense Mutations
Nonsynonymous mutation where a change in nucleotide sequence causes change in the amino acid sequence
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Nonsense Mutations
Nonsynonomous mutation where change in the nucleotide sequence induces a premature stop codon by changing an amino acid codon.
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Frameshift Mutation
INDEL Mutation causing the change in reading frame. Insertions of 1,2 change the downstream codons and INDELs of 3,6,9... are frame Insertions/Deletions that do not affects the sequence of remaining codons
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Neutral Mutations
Amino acid sequence changes but phenotype remains the same
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Loss of Function Mutation
Where a mutation causes a nonfunctional or less functional protein product
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Gain of Function Mutation
Mutation causes protein product to take on a new function
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Lethal Mutation
Cause embryonic or developmental lethality
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Conditional Mutation
Causes a new phenotypic affect but only within certain conditions
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Mutation Rate
Chance a specific base pair will change
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Mutation Rate equations
Total number of mutations/Number of mutations in a gene Or Number of mutations in a gene/Total bases in a gene
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Mutation Frequency
Chance a function altering mutation will occur (Non-neutral)