Genes Flashcards

1
Q

Heterochromatin

A

DNA tightly packaged & genes not expressed

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2
Q

Euchromatin

A

DNA loosely packaged & genes expressed

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3
Q

Gene

A

Sequence of nucleotides which determines the order of monomers in a polypeptide or nucleic acid molecule which a cell (or virus) may synthesise

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4
Q

Genome

A

The entire DNA sequence (human genome is 24 chromosomes)

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5
Q

Promoter

A

region of DNA that initiates transcription of a particular gene

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6
Q

Transcription reading & synthesis

A
  • DNA read 3’ to 5’

- mRNA synthesis 5’ to 3’

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7
Q

Translation reading & synthesis

A
  • mRNA read 5’ to 3’

- Polypeptide synthesis N to C

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8
Q

Mutation

A

A heritable alteration in a gene or chromosome and the process that produces the alteration

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9
Q

Small scale DNA changes

A
  • Base substitutions

- Base additions & deletions

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10
Q

Large scale DNA changes

A
  • Chromosome rearrangements

- Transposable element insertions

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11
Q

Transition base substitution

A

Change to same type of base

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12
Q

Transversion base substitution

A

Change to different type of base

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13
Q

Phenotype

A

The form (trait) that you will see

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14
Q

Genotype

A

The genetic make up

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15
Q

Mutation causing sickle cell anaemia

A

Base substitution mutation (missense)

Glu6 -> Val

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16
Q

How mutations change the amount of gene product

A
  • Alter promoter activity
  • Alter translation initiation at AUG
  • Prevent mRNA splicing
  • Reduce mRNA stability
17
Q

How mutations change the polypeptide length

A

Deletion & additions

  • Change ‘sense’ codon into stopcodon (nonsense mutation)
  • Deletion of stopcodon
18
Q

Mutations that cause large scale changes (chromosome rearrangement)

A
  • Insertion
  • Deletion
  • Inversion
  • Translocation
19
Q

Mutations that cause large scale changes (transposable element insertions)

A
  • Movement of discrete DNA elements

- Gene inactivity by insertion

20
Q

Transposable elements

A

Sequences of DNA that move from one location in the genome to another