MODULE 6 IQ1: Mutation Flashcards

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1
Q

mutagens definition

A

any agent which can cause a genetic mutation

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2
Q

mutations definition

A

refers to any change in the DNA sequence

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3
Q

mutagenesis definition

A

process by which the genetic material of an organism is changed, resulting in a mutation

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4
Q

types of mutagens

A

physical (EMR) sources, chemical sources, naturally occuring

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5
Q

physical sources description

A
  • has high ionising radiation
  • formation of covalent bonds between complementary nucleotides making them end prematurely
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6
Q

chemical sources description

A
  • substances that can give rise to mutations
  • usually free radicals
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7
Q

what are free radicals

A

odd unpaired electrons that try to bond with another electron to become stable

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8
Q

naturally occurring description

A

present at natural levels but after long term exposure they can cause mutations

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9
Q

biological mutagens

A

viruses, bacteria, fungi

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10
Q

non-biological mutagens

A

mercury, cadmium, charred surface of fish or hamburger

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11
Q

point mutation

A

alters, adds or removes one nucleotides from DNA or RNA sequence. only affects 1 gene

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12
Q

cause of point mutation

A
  • errors in DNA replication
  • exposure to mutagens
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13
Q

what is substitution mutation

A

1 nucleotide is replaced by another nucleotide

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14
Q

what are the types of substitution mutation

A

silent, missense, nonsense

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15
Q

silent mutation

A

new codon that still codes for same amino acid

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16
Q

missense mutation

A

different amino acid but still produces a protein

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17
Q

nonsense mutation

A

creation of stop codon

18
Q

what is frameshift mutation

A

addition or removal of 1 or 2 nucleotides causing whole DNA sequence to shift forwards or backwards

19
Q

what is the effect of a frameshift mutation

A

alters all codons due to production of different amino acids, causing significant effects on polypeptide produced

20
Q

what is chromosomal mutation

A

affects whole chromosomes and whole genes. also referred to as block mutations

21
Q

cause of chromosomal mutation

A
  • errors in cell division (meiosis)
  • exposure to mutagens
22
Q

what are the different types of chromosomal mutations

A

deletion, insertion, inversion, translocation, aneuploidy

23
Q

deletion

A

removes section of chromosome

24
Q

insertion

A

section of chromosome breaks off and attaches to different chromosome

25
Q

inversion

A

section of sequence breaking off chromosome, rotating 180 degrees and attaching to same chromosome

26
Q

translocation

A

whole chromosome or segment becomes attached or exchanged with another chromosome or segment

27
Q

aneuploidy

A

1 or more extra copies of an entire chromosome are made or entire chromosome is missing

28
Q

somatic mutations

A
  • occurs in body cells
  • affects individual but not hereditary
  • when mutated somatic cell continues to divide by mitosis, error in DNA is replicated
29
Q

germ line mutations

A
  • occurs in sex cells
  • affects individual, chance of it being hereditary
  • when germ line cell mutates, it is replicated in embryo and is hereditary
30
Q

exons

A

coding segment of DNA

31
Q

exons function

A

template to make polypeptides which later forms proteins

32
Q

exons importance

A

proteins are involved in coordinating bodily functions, maintenance and repair of body’s tissues and metabolic reactions

33
Q

significance of mutations in exons

A
  • causes number of genetic diseases resulting in change of phenotype
  • controls mitosis
34
Q

introns

A

non-coding segment of DNA

35
Q

introns function

A

regulatory functions
- gene expression & cell functioning for embyro development
- promoter regions (TATA box)
- terminators

36
Q

significance of mutations in introns

A
  • protein expressed in wrong time or place
  • disruptions in functions of regulatory elements (promoters/terminators)
  • increased risk of some non-communicable diseases
  • birth defects
37
Q

genetic variation in meiosis

A

produces 4 genetically unique haploid daughter cells
- crossing over (prophase I)
- independent assortment (metaphase I)
- random segregation of chromatids (anaphase II)

38
Q

genetic variation in fertilisation

A

random unison of male and a female gamete to produce an offspring
- one allele inherited from each parent

39
Q

genetic variation in mutations

A
  • any change to DNA sequence
40
Q
A