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72 Cards in this Set
- Front
- Back
- 3rd side (hint)
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What is a mutation? |
An affected change in the DNA sequence that goes through replication |
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What is a lesion? |
An affected change in the DNA sequence before replication |
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What is a chromosomal mutation? |
Large deletions, duplications, inversions, and translocations |
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What is a point mutation? |
A substitution of one base pair for another |
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What is a transposition mutation? |
Mobile DNA (transposons) that can move from place to place in the genome |
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What is a gene mutation? |
A change within a gene region of the DNA |
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What is a Germ Line Mutation? |
A change within DNA that will be passed to the next generation |
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What is a somatic mutation? |
A change within cells that are not non-reproductive cells |
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What is a transition mutation? |
A type of point mutation that causes a base change that keeps it as it's original molecule |
Purine to Purine |
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What is a transversion point mutation? |
A type of point mutation that causes a base change that changes the molecule |
A purine to a pyrimidine |
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What does no mutation mean? |
The wild type protein is produced |
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What is a missense mutation? |
The new codon encodes a different amino acid |
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What is a nonsense mutation? |
The new codon is a stop codon |
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What is a silent mutation? |
The new codon encodes the same amino acid |
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True or False Mutations always have a phenotypic consequence. |
False |
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What does change in size and sequence of chromatin do? |
It may alter the structure of chromatin at that mutation. |
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What are the types of molecularly affected mutations? |
Transition, transversion, missense nonsense, silent, neutral, and frameshift |
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What is a frameshift mutation? |
Put triplet code out of register which leads to incorrect translation |
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What are the types of phenotypically affected mutations? |
Loss-of-function, null mutation, gain-of-function, conditional, lethal, forward, reverse, and suppressor. |
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What is the loss-of-function mutation? |
A change that produces a reduced function for the gene product |
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What is a null mutation? |
A change that leads to complete loss of a gene product's function |
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What is a gain-of-function mutation? |
A change that produces a new or enhanced function for the gene product |
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What is a conditional function? |
A phenotypic expression that depends on context |
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What is a lethal mutation? |
The mutation is deadly to the cell or organism |
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What is a forward mutation? |
A mutation going from the wild type to the mutant |
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What is a reverse mutation? |
A mutation going from the mutant type to the wild type |
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What is a suppressor mutation? |
A change at a different site from the original mutation that suppresses the mutant phenotype |
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What is an intragenic suppressor? |
It alters a second site in the gene to compensate for the first mutation |
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What is an intergenic suppressor? |
It alters a different gene to suppress the mutant phenotype |
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What types of DNA repair is there? |
Nonhomologous end-joining, & homologous recombination |
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What is Nonhomologous End-joining? |
Quickly removes damaged DNA ends but does not restore the original sequence of DNA and doesn't require a second DNA as a template |
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What is Homologous Recombination? |
Slowly, nearly precise repair to restore the original DNA sequence but it does require a 2nd copy as a repair template |
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What's the definition of population genetics? |
The study of patterns, variation, and changes in allele frequencies in groups of interbreeding individuals |
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What is a gene pool? |
The set of shared alleles of an interbreeding group |
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What is microevolution? |
Changes in allele frequencies in the gene pool overtime |
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True or False? Allele frequencies may be different in populations. |
False |
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True or False? Populations may look very different phenotypically |
True |
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How do you determine genotype frequencies? |
Count each genotype in the population and divide by the total number of individuals |
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How do you determine allele frequencies? |
Either genotype counts or from genotypic frequencies |
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How are allele frequencies designated? |
P, Q, and R |
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How many assumptions does the Hardy-Weinberg Equilibrium need? |
5 |
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What are the 5 assumptions that are needed for Hardy-Weinberg Equilibrium? |
Infinitely large population size, completely random mating, no mutations, no migration and no selection |
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What does it mean when the assumptions of the Hardy-Weinberg Equilibrium are met |
P+Q=1 |
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What happens after one generation after the Hardy-Weinberg Equilibrium? |
P^2+2PQ+q^2 = 1 |
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What does p and q mean for the Hardy-Weinberg Equilibrium? |
They are the homozygotes |
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What does pq mean in the Hardy-Weinberg Equilibrium? |
They are the heterozygotes |
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True or False? allele frequencies change after establishments through generations? |
False |
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True or false? Genotype frequencies are established after one generation of random mating and does not change after? |
True |
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How are rare recessive alleles are maintained? |
They are maintained as part of the carriers |
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What is variation? |
A necessary component for microevolution of populations |
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Where do you find genetic variation? |
External whole organism phenotype, proteins, and DNA sequences |
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What should you observe for genetic variation for external whole organism phenotype? |
Codominant and incompletely dominant traits allow heterozygotes to be recognized |
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What should you observe for genetic variation in proteins? |
As little as single amino acid changes can be detected between individuals |
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What should you observe for genetic variation in DNA sequences? |
A single nucleotide can be the difference between individuals and is much more sensitive to detect differences than proteins or external phenotypes |
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What may happen with variations at the protein level? |
There may not be any functional consequences |
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What are synonymous changes in proteins? |
Codon changes does not alter the amino acid in the protein |
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What are non-synonymous changes in proteins? |
Codon changed alters the amino acid to another amino acid or to termination of the protein and may have functional consequences |
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What is mutagenesis? |
The process of making changes in DNA |
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What are the two types of mutagenic agents? |
Spontaneous mutations, and induced mutations |
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How does spontaneous mutations happen? |
Damage incurred via cellular processes |
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What does DNA replication errors do? |
Can lead to mutations |
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What are tautomers? |
Each of the four DNA bases exists in different chemical forms |
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True or false? Rare pairings have been supported to cause mutations. |
False |
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What is wobble? |
Normal, protonated and other forms of the bases are able to pair because of flexibility in the DNA helical structures |
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What are 2 errors caused from base pairing? |
Incorporated errors and Replicated errors |
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What is an incorporated error? |
When a mispaired base has been incorporated into a newly synthesized nucleotide chain |
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What is a replicated error? |
When the one bad strand is made into a new DNA and becomes a permanent mutation |
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What were the two spontaneous chemical changes? |
Depurination and deamination |
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What is depurination? |
The loss of a purine base from a nucleotide |
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How does depurination happen? |
When a covalent bond between C1 of the deoxyribose and the purine base is broken, resulting in an apurinic site |
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What is deaminaton? |
The loss of an amino group from a base. |
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What often happens in deamination? |
Often a C turns into an U which is often is recognized and switched back by the cell repair system |
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