Mutation Flashcards

(51 cards)

0
Q

Purine

A

Nitrogen base, adenine and guanine, larger

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1
Q

Nucleotide

A

Makes up DNA, 5-carbon sugar with a phosphate group and then one of four nitrogen bases

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2
Q

Pyrimidine

A

Nitrogen base, smaller, cytosine and thymine

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3
Q

Adenine

A

Nitrogen base, purine, match to thymine

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4
Q

Guanine

A

Purine, nitrogen base, match to cytosine

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5
Q

Cytosine

A

Nitrogen base, pyrimidine, match to guanine

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6
Q

Thymine

A

Nitrogen base, pyrimidine, match to adenine

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7
Q

Uracil

A

Nitrogen base in mRNA, pyrimidine, match to adenine

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8
Q

DNA

A

Deoxyribonucleic acid, two strands of nucleotides in a double helix, bonds stabilized by hydrogen bonds

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9
Q

RNA

A

Initiates DNA replication, creates mRNA which codes for proteins

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10
Q

Protein

A

Made of amino acids, performs most of the body’s functions

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11
Q

Redundancy of genetic code

A

Several codons or triplets code for the same amino acids which allows for silent mutations

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12
Q

Transcription

A

DNA is copied to make mRNA

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13
Q

Translation

A

mRNA is read and translated to code for amino acids to make proteins

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14
Q

Genetic code

A

64 mRNA codons that code for amino acids and starts and stops in a sequence

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15
Q

Nucleotide substitutions

A

Point mutations, only affect that point, mutations within the nucleotides

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16
Q

Point mutation

A

Only affect one point within the sequence

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17
Q

Transition

A

Purine switches with a purine (A G) or pyrimidine with pyrimidine (T C), more common and less likely to be detected

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18
Q

Transversion

A

Purine switched with pyrimidine or reverse (A or T C or G)

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19
Q

Synonymous

A

Silent

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20
Q

Silent

A

No change to the amino acid coded for

21
Q

Non-synonymous

A

Non-silent, changes an amino acid, mis-sense or non-sense

22
Q

Mis-sense

A

Changes the meaning or an amino acid

23
Q

Non-sense mutation

A

Changes to a stop codon where it shouldn’t be or removes it, messes everything up

24
Nucleotide insertion
Insert a nucleotide and cause a frame shift in how the sequence is read, a non-sense mutation
25
Nucleotide deletion
Delete a nucleotide, a non-sense frame shift mutation where things are shifted over
26
Frame shift mutation
The way the sequence is read changes, insertion or deletion result, change amino acids or where the sequence ends
27
Chromosome mutation
Mutation of a chromosome
28
Chromosome deletion
Removal of a portion of a chromosome, during homologous pairing in meiosis crossing over not balanced
29
Chromosome duplication
An extra copy of a portion of a chromosome is present due to duplication, during meiosis and homologous chromosome pairing crossing over not balanced, source of new genes or new functions
30
Chromosome inversion
One side or portion of a chromosome is inverted or flipped, chromosome broken and not put back together correctly, little effect if genetic material not lost or genes disrupted, suppresses recombination
31
Chromosome translocation
Two non-matching portions of two chromosomes switch places, whole arms get swapped (Robertsonian) and an arm can be lost, decrease fertility
32
Polyploidy
Genome duplication of entire sets of chromosomes, instead of 2N they have 4N, 6N and up, common in self-fertilizing plants and some animals, genes can be turned off or modified, can creat new functions or species
33
DNA polymerase
Helps to replicate DNA, used in transcription and translocation
34
DNA repair enzymes
Repair replication mistakes if caught
35
To find amino acids with a chart
Start on left and match first nucleotide, use top to find second and use right side to find last nucleotide in codon
36
Major causes of mutations
1. Environmental agents (uv radiation or organic solvents) | 2. DNA replication mistakes uncorrected by repair enzymes
37
Human egg or sperm has more nucleotide mutations and why?
Sperm, more continuous replication, accumulation of mutations, 2-5 times more mistakes than eggs
38
Identify the type of mutation with original and mutant code
Was anything added/removed? Was anything changed? What changed?
39
Major source of new genes and multigene families
Chromosome duplication or deletion (hemoglobin and globin genes)
40
Mutation that suppresses recombination
Chromosome inversion, alleles inherited together without recombining
41
Mutation increase in older women's eggs
Chromosome mutation
42
Occurrence of polyploidy and consequences
Duplication of chromosomes, self-fertilizing plants, genes get turned off or modified
43
Most mutations
Neutral to slightly deleterious
44
Neutral mutations
1. Don't occur in protein coding region 2. Occur in protein coding region but do not affect amino acid 3. Affect amino acid but do not have a functional effect on the protein overall 4. Only has a function effect in certain environments
45
Environment and mutation
The resources available and the setting in which the population exists, PKU in humans, scurvy as result of GULO gene
46
Measure mutation rates
1. Easily recognizable phenotype to calculate number of new genotypes per generation 2. Identify nucleotide changes from DNA sequences
47
New mutations per human in protein-coding genes
0.4 mutations per genome per generation
48
New nucleotide mutations per human
175 nucleotide mutations per genome per generation
49
Genes in the haploid human genome
20-25,000
50
Factors influencing variable mutation rates
1. Variable environments 2. Variation in number cell divisions prior to gamete formation-generation time 3. Variation in accuracy of DNA polymerase 4. Variation in accuracy of DNA repair enzymes