Term
| ___ has deoxyribose on the ____ carbon |
|
Definition
|
|
Term
|
Definition
| Adenine, Guanine, Thymine and Cytosine |
|
|
Term
|
Definition
| Adenine, Guanine, Uracil and Cytosone |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Nucleus, cytoplasm and/or ribosomes |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Synhesized from DNA when needed |
|
|
Term
| Why is DNA more stable than RNA |
|
Definition
| it has a C-H bond instead of a C-OH bond making it more stable in alkaline (basic) conditions |
|
|
Term
| ____ (DNA/RNA)has smaller grooves than ____ (DNA/RNA) making it harder for enzymes to attack |
|
Definition
|
|
Term
| Cells create identical copies of DNA during the ___ phase |
|
Definition
|
|
Term
| What is the function of Helicase? |
|
Definition
| unwind and separate the DNA strands by denaturing the H-bonds between base pairs |
|
|
Term
| What prevents re-annealing at the replication fork during DNA replication |
|
Definition
| Single strand binding proteins |
|
|
Term
| _____ prepare template strands, _________ inserts 10 bases using ______ (base) instead of _____ (base), _________ adds the rest of the bases going __' to __' |
|
Definition
| RNA primers, DNA Primase, DNA Polymerase, 5', 3' |
|
|
Term
| _______ are created on the lagging strand due to the 5' to 3' direction of replication |
|
Definition
|
|
Term
| a different DNA ________ replaces the uracil in the primers |
|
Definition
|
|
Term
| what is the function of DNA ligase? |
|
Definition
| acts like genetic glue to anneal strands of template DNA to synthesized DNA as well as join Okazaki fragments |
|
|
Term
| what are the 3 types of DNA replication? |
|
Definition
| Semi-conservative, conservative and dispersive |
|
|
Term
| define: Semi-conservative replication |
|
Definition
| daughter strands of DNA consist of one “old” strand (the template) and one “new” strand |
|
|
Term
| ___ (euk/pro) use semi-conservative replication |
|
Definition
|
|
Term
| define: conservative replication |
|
Definition
| after replication, the two daughter strands reanneal and the template strands reanneal, producing 100% conservation in the template DNA and a 100% new daughter DNA |
|
|
Term
| define: dispersive replicatiion |
|
Definition
| parental strands and daughter strands are cleaved in multiple places after replication and interspersed within each-other, creating two new DNA strands that have both old and new DNA |
|
|
Term
| ________ is to Eukaryote as circular DNA is to _______ |
|
Definition
|
|
Term
| Circular DNA has __ origins(s) of replication while linear DNA has ___ |
|
Definition
|
|
Term
| What are the 3 steps to transcription? |
|
Definition
| Initiation, Elongation and Temrination |
|
|
Term
Which order is correct for transcription events?
1. General TF Binds to TATA box, 5' cap added, polyadenlylation tail added, RNA cleaved
2. RNA pol II binds to TF complex, TF binds to TATA box, RNA pol II continues down DNA 5'-3', Tail added, RNA cleaved
3. RNA pol II bound to TF complex, 7 Methyl Guanine cap added, Polyadenylation tail added, mRNA cleaved
4. General TF binds to promotor, RNA pol II binds to TF complex, RNA pol II synthesizes 5'-3', Cap added, Tail added, RNA cleaved |
|
Definition
|
|
Term
| True or false, Eukaryotes have many promotors |
|
Definition
| True, proximal, core and "the" promotor |
|
|
Term
| What would happen if there were no promoters on a DNA strand? |
|
Definition
| RNA polymerase would be undable to bind with the DNA strand (RNA pol binds to TF complex which needs TF to bind to a promotor) |
|
|
Term
| what are some regulators that lie up or downstream from promotors? |
|
Definition
|
|
Term
| anticodons are found on __RNA |
|
Definition
|
|
Term
| where can ribosomes be found |
|
Definition
| Rough endoplasmic reticulum or cytoplasm |
|
|
Term
| What part of the mRNA allows it to leave the nucleus |
|
Definition
| 7 methyl guanine cap and polyadenylation tail |
|
|
Term
|
Definition
| how many full sets of chromosomes a cell has |
|
|
Term
| how can you determine if two chromosomes are homologus given a photo |
|
Definition
| Homologous chromosomes will LOOK THE SAME (i.e. same arm lengths and centromere positioning) and can be in a post-replicated stage (the Xs) or not (single lines with a centromere) |
|
|
Term
| True or false, sister chromatids count as different chromosomes |
|
Definition
|
|
Term
| after replication in S phase, the number of chomosomes increases. True or false? |
|
Definition
| False: sister chromatids share a centromere and are therefore considered the SAME chromosome |
|
|
Term
| True or false, an organism with 48 chromosomes is more genetically complex than an organism with 5 chromosomes |
|
Definition
| False: One gene can be transcribed in many different ways (i.e. imprints, alternative splicing, methylation, acetylation, etc.) to produce multiple proteins allowing extensive complexity |
|
|
Term
| If a centromere is located in the middle of the chromosome, what will the chromosome be called? |
|
Definition
|
|
Term
| where is a centromere placed on a submetacentric chromosome? |
|
Definition
| between the middle and end |
|
|
Term
| If a centromere is located close to the end of the chromosome, what will the chromosome be called? |
|
Definition
|
|
Term
| where is a centromere placed on a telocentric chromosome? |
|
Definition
|
|
Term
| true or false, multi-copy genes are not functional |
|
Definition
| false: multicopy genes are functional genes that are present in the genome more than once making them repetitive |
|
|
Term
| True or false, a majority of repetitive sequences do not encode proteins |
|
Definition
|
|
Term
| what are the 3 main categories of repetitive sequences? |
|
Definition
| satellite DNA, VNTRs/STRs & SINEs/LINEs |
|
|
Term
|
Definition
| Heterochromatin found to be associated with centrometic and telomeric regions of the chromosome |
|
|
Term
|
Definition
| Variable number (5-100bp)/short (<15bp) tandem repeats of DNA sequences |
|
|
Term
Prokaryotes do not contain any;
A) Satellite DNA
B) VNTRs
C) SINEs |
|
Definition
|
|
Term
| true or false, Rapid reannealing often occurs in mutiple DNA fragments with similar sequences |
|
Definition
|
|
Term
Satellite DNA is considered to be ______ repetitive DNA
A) Low
B) Moderate
C) Highly
D) Non |
|
Definition
|
|
Term
| _% of the human genome is made of Satellite DNA while it's _% for mice |
|
Definition
|
|
Term
VNTRs and STRs are considered ____ repetitive DNA
A) Highly
B) Moderately
C) Low
D) non |
|
Definition
|
|
Term
| clusters of VNTRs throughout the genome are referred to as? |
|
Definition
|
|
Term
| What real life application do VNTRs have? |
|
Definition
|
|
Term
| is DNA slightly (-) or (+)? |
|
Definition
|
|
Term
| VNTRs can be used in ___ ________ because they change the length of an allele |
|
Definition
|
|
Term
| Name the two types of electrophoresis |
|
Definition
|
|
Term
| What is the difference between a microsatellite and a minicatellite? |
|
Definition
Microsatellite: STRs
Minisatellite: clusters of VNTRs dispersed around the genome |
|
|
Term
| STRs are approx _____bp long |
|
Definition
|
|
Term
| What do geneticists use STR clusters for during genome analysis |
|
Definition
|
|
Term
SINEs and LINEs are considered _______ repeating DNA
A) Highly
B) Moderately
C) low
D) Non |
|
Definition
|
|
Term
| SINEs and LINEs can have ________ sequences |
|
Definition
|
|
Term
| Define: Transposable sequence |
|
Definition
| mobile sequences within genome, allowed to move to different locations within genome |
|
|
Term
| Transposed sequences tend to be ________ throughout the genome instead of tandemly repeated |
|
Definition
|
|
Term
SINEs/LINEs can be ________bp in length
A) 5-50
B) 100-500
C) 1000-10k
D) Any length |
|
Definition
|
|
Term
| A ______ (large/Small) portion of the human genome is composed of transposable sequences |
|
Definition
|
|
Term
|
Definition
| short interspersed elements that are <500bp long but may be present >1.5million times in human genome (13% of human genome) |
|
|
Term
| SINEs are ____% of the genome while LINEs are ___% |
|
Definition
|
|
Term
| The ____ DNA family is the best known human SINE related sequence |
|
Definition
|
|
Term
| ALU DNA members have _____bp to ______bp in length and are _____ (dispersed/uniformly) in/around the genes instead of _______ (dispersed/uniformly) |
|
Definition
| 200, 300, dispersed, uniformly |
|
|
Term
| 5% of the human genome consists of the ____ DNA family |
|
Definition
|
|
Term
|
Definition
| long interspersed elements that are ~6kbp long and found ~859k times in the human genome (21% of human genome) |
|
|
Term
| L1 DNA family is a good example of a ____ in humans |
|
Definition
|
|
Term
L1 is found ______ times in the human genome.
A) 10k
B) 5K
C) 100K
D) >500K |
|
Definition
|
|
Term
|
Definition
| When a single gene may impact multiple traits |
|
|
Term
|
Definition
| interplay between multiple genes that have an impact on organism’s phenotype (i.e. hair colour gene doesnt matter if you have the bald gene) |
|
|
Term
Gene interaction includes/effect;
A) Dominant/recessive alleles
B) Thresholds (if there are any)
C) Incomplete or co-dominance
D) Transcription
E) All of the above |
|
Definition
|
|
Term
| Define: Conditional Mutations |
|
Definition
| a mutation that are only expressed under certain conditions (i.e. tempurature) |
|
|
Term
|
Definition
| when the physical location of a gene in relation to other genetic material influences its expression |
|
|
Term
| if a gene is relocated adjacent to a heterchromatic region, it ______ (will/will not) be expressed |
|
Definition
|
|
Term
|
Definition
| the percentage of individuals who show at least some degree of expression of mutant genotype |
|
|
Term
|
Definition
| the range of expression of the mutant genotype |
|
|
Term
| Define: Onset of genetic expression |
|
Definition
| some genes are only expressed later in life, meaning one may not know of a mutation until later in life when it is expressed |
|
|
Term
| Define: Genetic anticipation |
|
Definition
| heritable disorders that exhibit a progressively earlier age of onset and an increased severity of the disorder in each successive generation |
|
|
Term
|
Definition
| genetic elements that can amplify themselves in a genome and are components of Eukaryotic DNA. Like viruses they are able to code their own transcription proteins. |
|
|
Term
| what is the difference between a character and a trait? |
|
Definition
Character: Heritable feature (i.e. flower colour)
Trait: Variant of a characteristic (i.e. the actual colour of the flower) |
|
|
Term
|
Definition
| an essential RNA component of a ribosome for protein synthesis |
|
|
Term
| constitutive vs faculative |
|
Definition
Constitutive = constant (areas ALWAYS heterochromative)
Faculative: Inconsistant (areas of chromosome are regulated between hetero and eu) |
|
|
Term
| Phosphodiester bond vs hydrogen bond |
|
Definition
phosphodiester bond: links nucleic acids together in DNA building the spine
hydrogen bonds: joins nitrogenous bases and holds the two strands of the double helix together |
|
|
Term
|
Definition
| the hypothesis stating that the 3rd base in an anticodon can align in several ways to allow it to recognize more than one base in the codons of mRNA (3rd base is less specific) |
|
|
Term
|
Definition
| Open Reading Frame: a part of the reading frame that has the potential to be translated. Essentially a continuous stretch of codons that do not contain a stop codon UAA UAG or UGA |
|
|
Term
|
Definition
|
|
Term
|
Definition
| a double stranded DNA made via recombination of single complimentary strands derived from different sources (i.e. different homologous chromosomes – even from different species) |
|
|
Term
| What is the difference between dispersed and focused promoters? |
|
Definition
| dispersed promoters are associated with and facilitate transcription of a particular constitutive gene, while focused promoters help initiate transcription of a single mRNA transcript (specific transcription start site) and are associated with genes which have highly regulated transcription levels |
|
|
Term
| describe 1st-4th degree protein structures |
|
Definition
1st: chain of amino acids
2nd: beta pleated or alpha helix
3rd: sheets and helices are attracted to each other causing folding
4th: more than one amino acid chain |
|
|
Term
the Ames test allows us to...
A) Classify mutations
B) Locate mutations in the genome
C) Test for mutagens within substances
D) DNA fingerprint |
|
Definition
|
|
Term
| why is the his(-) always treated with liver enzymes before testing? |
|
Definition
| some substances are not mutagenic until they pass through the liver (want to see how it would actually mutate in body) |
|
|
Term
| Why may there be some his (+) even if the substance is NOT mutagenic? |
|
Definition
| Spontaneous mutations can often occur |
|
|
Term
|
Definition
| DNA Polymerase III proofreads each step, catching 99% of all the errors that occur during DNA replication. |
|
|
Term
| how does the DNA damage repair system "Proofreading" counteract damage events? |
|
Definition
| enzyme sees its error and “reverses” (behaves in a 3’ --> 5’ direction) and cuts out incorrect nucleotide, replacing it with the correct one |
|
|
Term
| What is mismatch repair used for? |
|
Definition
| : base-base mismatches, small insertions or deletions that remain after proofreading can be corrected via mismatch repair |
|
|
Term
| mismatch repair must work ______ (before/after) Methylation |
|
Definition
|
|
Term
| what is the order of events during mismatch repair? |
|
Definition
1. before methylation, mismatch enzyme binds to daughter DNA strand
2. ENDOnuclease snips daughter backbone adjacent to mismatch
3. EXOnuclease unwinds and degrades nicked DNA until reaches mismatch
4. DNA pol fills gap
5. DNA ligase seals gap |
|
|
Term
| newly replicated DNA daughter strands are not methylated until ______ _______ (enzyme)recognizes it and methylates it |
|
Definition
|
|
Term
| when does "post-replication" repair occur? |
|
Definition
| after damaged DNA has escaped repair and has failed to be completely replicated |
|
|
Term
| in laments terms; how does post-replication repair work? |
|
Definition
| the faulty strand of DNA splits and uses the sister chromatid as a "good" template to copy from |
|
|
Term
| homologous recombination repair is also known as _____ |
|
Definition
|
|
Term
| how does SOS repair work? |
|
Definition
| random (possibly incorrect) nucleotides are inserted in places that would usually stall DNA replication. |
|
|
Term
| True or false, homogeneous recombination repair is potentially mutagenic |
|
Definition
| true, but it allows the cell to survive when it otherwise would have died |
|
|
Term
| How does photoreactivation repair work? |
|
Definition
| via the photoreactivation enzyme (PRE), the bonds between thymine dimers are cleaved to reverse the effects of UV radiation on the DNA |
|
|
Term
| True or false; the enzyme responsible for photoreactivation repair needs a photon to associate with the dimer |
|
Definition
| False; Although the enzyme can associate with the dimer in the dark, it needs to absorb a photon in order to cleave |
|
|
Term
which of the following are NOT DNA error repair systems?
A) Base/Nucleotide excision repair
B) Double strand break repair
C) SOS repair
D) Non-Homologous end joining
E) None of the above
F) 2 of the above |
|
Definition
|
|
Term
| which is more error prone during a double stranded break? homologous recombination repair or non-homologous end joining? |
|
Definition
| non homologous end joining |
|
|
Term
| define: forwards genetics |
|
Definition
| finding a phenomenon and searching for the gene that caused it |
|
|
Term
|
Definition
| taking a gene of interest and induce mutations to see what it effects |
|
|
Term
| True or false; insertions or deletions cause no issues if they are within an intron |
|
Definition
| FALSE; insertions and deletions can cause frame-shift mutations leading to early termination or changes in the amino acids. These can be deadly if early on and in non 3s |
|
|
Term
| frameshift mutations can cause ______ or _____ mutations |
|
Definition
|
|
Term
| define: Silent/synonymous mutation |
|
Definition
| the nucleotide changed does not cause a change in the amino acid coded for. |
|
|
Term
| True or false; the genetic code is degenerate |
|
Definition
|
|
Term
| True or false; The wobble effect aids in silent mutations |
|
Definition
|
|
Term
|
Definition
| the change of one base pair to another in a DNA molecule |
|
|
Term
| creation of a new triplet that encodes for a different amino acid is known as a _________ mutation |
|
Definition
|
|
Term
| creation of a STOP codon, terminating the transcription sequence prematurely (UAA, UAG, UGA) is known as a _______ mutation |
|
Definition
|
|
Term
| a point mutation in which a pyrimidine replaces another pyrimidine, or a purine replaces another purine is known as a _______ |
|
Definition
|
|
Term
| a point mutation in which a pyrimidine replaces a purine or vice versa is known as a _________ |
|
Definition
|
|
Term
| true or false, inserting a transposable element into an exon can produce mutant phenotypes BUT when the transposable element removes itself the phenotype changes back |
|
Definition
|
|
Term
| which two enzymes are responsible for removal and insertion of transposable genes? |
|
Definition
| Transposase (coding for it is within element) and resolvase |
|
|
Term
| ______ transposition ends up with two copies of the TE while ______ transposition looks like the gene is "jumping" |
|
Definition
| Replicative, conservative |
|
|
Term
| non-autonomous TE are also known as; |
|
Definition
|
|
Term
| autonomous TE are also known as; |
|
Definition
|
|
Term
| define: Autonomous transposable element |
|
Definition
| a transposable element that encodes for enzymes needed for transposition (NOTE: active TE elements can be deactivated by mutation) |
|
|
Term
| non-autonomous transposable elements require _____ produced enzymes fro transposition |
|
Definition
|
|
Term
| Ds can only move with the presence of __ |
|
Definition
|
|
Term
| if a TE is inserted WITHIN a gene it _________ but if inserted NEAR a gene it may cause _________ |
|
Definition
| inhibits expression, chromosomal breakage |
|
|
Term
| define: Hypomorphic protein activity |
|
Definition
|
|
Term
| define: Amomorphic protein activity |
|
Definition
|
|
Term
| loss of function mutations can cause proteins to have __________ to ______ function |
|
Definition
| little (hypomorphic) to no (amomorphic) |
|
|
Term
| usualy LOF mutations are ______ due to haplosufficiency |
|
Definition
|
|
Term
| true or false, LOF mutations can be conditional |
|
Definition
| true; proteins that are temperature sensitive and will denature at lower temperatures than the WT, allowing them to function at permissive temperatures but not restrictive. |
|
|
Term
| a dominant-negative mutation is considered a type of _______ mutation |
|
Definition
|
|
Term
| define: Dominant-negative mutation |
|
Definition
| when a mutant product interferes with the normal function of the WT allele |
|
|
Term
| define: Gain of function mutation |
|
Definition
| a mutation that results in products that are made at an excessive amount, the wrong place/time and/or have a new activity |
|
|
Term
| define: Neomorphic allele |
|
Definition
| A gene that has gained a function due to mutation |
|
|
Term
| define: Hypermorphic allele |
|
Definition
| an allele that causes enhanced protein function |
|
|
Term
| what can cause an allele to become hypermorphic? |
|
Definition
| mutations in promoters can make a site it more accessible to TF and RNA Pol (mutations can increase affinity of receptors for ligands or enzymes for substrates) or it can denature a silencer |
|
|
Term
|
Definition
| Single nucleotide polymorphism (SNP): variation within one nucleotide pair (useful as a genetic marker) |
|
|
Term
| True or false; an SNP locus is 2 alleles that differ by 2 or more bps |
|
Definition
| false, an SNP locus is two alleles that differ by 1 bp |
|
|
Term
| how are SNPs used as genetic markers? |
|
Definition
| this bp differentiation can alter cutting sites for one or more restriction enzymes making the DNA fragments different sizes during electrophoresis |
|
|
Term
|
Definition
| Restriction Fragment Length Polymorphism (RFLP): polymorphic sites generated when specific DNA sequences are recognized and cut by restriction enzymes |
|
|
Term
|
Definition
| a short segment of DNA whose sequence and location are known, making them useful as landmarks for mapping purposes |
|
|
Term
| True or false; SNPs and RFLPs are heritable |
|
Definition
| True, If SNPs & RFLPs occur within or near a gene involved in a trait, they can be inherited with that trait |
|
|
Term
| True or fase; the same phenotype can not be caused by different genotypes |
|
Definition
| False, due to dominant and recessive phenotypes; genotype Gg and GG will show the same phenotype |
|
|
Term
| True or false; The terms dominant and recessive describe phenotypes NOT alleles |
|
Definition
| True; dominance and recessiveness are all relative |
|
|
Term
| southern blots are used for... |
|
Definition
| detection of specific DNA sequences in DNA samples |
|
|
Term
| Northern blots use ____ (or isolated _____) instead of DNA to study gene expression |
|
Definition
|
|
Term
| Western blots are used to detect... |
|
Definition
| specific proteins by polypeptide length (if denatured), 3-D structure and/or its charge |
|
|
Term
| Blots allow us to _____ DNA and treat the paper with harsh chemicals where as the gel would _______ |
|
Definition
|
|
Term
| define; Probe (referring to southern blotting) |
|
Definition
| a complimentary strand of DNA that contains fluorescent dye or radiation to tell us where it binds |
|
|
Term
| what would be used as a probe in Western blotting? |
|
Definition
|
|
Term
|
Definition
| the loss of one of the nitrogenous bases in an intact double-helical DNA molecule (usually a purine) |
|
|
Term
| what happens if depurination is not is not fixed by the time we start replication? |
|
Definition
| DNA polymerase may just place a random nucleotide in it’s place due to the lack of template |
|
|
Term
|
Definition
| when an amino group in cytosine or adenine is converted into a keto group |
|
|
Term
| during deamination Cytosine is often converted into ______ and adenine is converted into __________ |
|
Definition
|
|
Term
| deamination during replication can cause ________ often leaving a _______ strand and a ______ strand in the daughter DNA |
|
Definition
| changes in base pairing, mutant, normal |
|
|
Term
| define: Trinucleotide repeat/repeat expansion mutation |
|
Definition
| a mutation caused by tandemly repeated cluster of 3 nucleotides (i.e. CTG) within or near a gene |
|
|
Term
| Huntington's disease and myotonic dystrophy are examples of a __________ mutation |
|
Definition
| Trinucleotide repeat/repeat expansion |
|
|
Term
| what is it called when one strand of DNA template loops out and becomes displaced during replication, or when DNA pol slips/stutters during replication |
|
Definition
|
|
Term
| _______ are mutation hot spots |
|
Definition
|
|
Term
| Deletions occur in replication slippage when ______ loops out and insertions occur when _____ loops out |
|
Definition
| template strand, newly synthesized strand |
|
|
Term
| a base analog, in simple terms is considered a ________ |
|
Definition
|
|
Term
| Purine and prymidine bases that have differing structure from a normal base but the same chemical behavior is known as a __________ |
|
Definition
|
|
Term
| define: intercalating agent |
|
Definition
| a chemical that can insert itself between stacked bases at the centre of DNA double helix |
|
|
Term
| intercalating agents can cause a _________ mutation |
|
Definition
|
|
Term
| what is the difference between a forward and reverse mutation? |
|
Definition
Forward: changes wildtype into mutant phenotype
Reverse: restores mutant phenotype into wildtype |
|
|
Term
|
Definition
| the frequency in which mutations take place at a given locus or within a population |
|
|
Term
| monomorphic alleles are also known as _____ |
|
Definition
|
|
