Mutation Flashcards

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
Q

Nucleotide insertion

A

Insert a nucleotide and cause a frame shift in how the sequence is read, a non-sense mutation

25
Q

Nucleotide deletion

A

Delete a nucleotide, a non-sense frame shift mutation where things are shifted over

26
Q

Frame shift mutation

A

The way the sequence is read changes, insertion or deletion result, change amino acids or where the sequence ends

27
Q

Chromosome mutation

A

Mutation of a chromosome

28
Q

Chromosome deletion

A

Removal of a portion of a chromosome, during homologous pairing in meiosis crossing over not balanced

29
Q

Chromosome duplication

A

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
Q

Chromosome inversion

A

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
Q

Chromosome translocation

A

Two non-matching portions of two chromosomes switch places, whole arms get swapped (Robertsonian) and an arm can be lost, decrease fertility

32
Q

Polyploidy

A

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
Q

DNA polymerase

A

Helps to replicate DNA, used in transcription and translocation

34
Q

DNA repair enzymes

A

Repair replication mistakes if caught

35
Q

To find amino acids with a chart

A

Start on left and match first nucleotide, use top to find second and use right side to find last nucleotide in codon

36
Q

Major causes of mutations

A
  1. Environmental agents (uv radiation or organic solvents)

2. DNA replication mistakes uncorrected by repair enzymes

37
Q

Human egg or sperm has more nucleotide mutations and why?

A

Sperm, more continuous replication, accumulation of mutations, 2-5 times more mistakes than eggs

38
Q

Identify the type of mutation with original and mutant code

A

Was anything added/removed? Was anything changed? What changed?

39
Q

Major source of new genes and multigene families

A

Chromosome duplication or deletion (hemoglobin and globin genes)

40
Q

Mutation that suppresses recombination

A

Chromosome inversion, alleles inherited together without recombining

41
Q

Mutation increase in older women’s eggs

A

Chromosome mutation

42
Q

Occurrence of polyploidy and consequences

A

Duplication of chromosomes, self-fertilizing plants, genes get turned off or modified

43
Q

Most mutations

A

Neutral to slightly deleterious

44
Q

Neutral mutations

A
  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
Q

Environment and mutation

A

The resources available and the setting in which the population exists, PKU in humans, scurvy as result of GULO gene

46
Q

Measure mutation rates

A
  1. Easily recognizable phenotype to calculate number of new genotypes per generation
  2. Identify nucleotide changes from DNA sequences
47
Q

New mutations per human in protein-coding genes

A

0.4 mutations per genome per generation

48
Q

New nucleotide mutations per human

A

175 nucleotide mutations per genome per generation

49
Q

Genes in the haploid human genome

A

20-25,000

50
Q

Factors influencing variable mutation rates

A
  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