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Cell Biology and Genetics > Mutations 2 > Flashcards

Mutations 2 Flashcards

1
Q

What are the types of mutations in terms of cell type?

A

Germ line/hereditary

Somatic

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2
Q

What type of cells are affected by germ line mutations?

A

Sperm

Eggs

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3
Q

What type of cells are affected by somatic mutations?

A

Body cells

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4
Q

Are germ line mutations or somatic mutations passed on to offspring?

A

Germ line mutations

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5
Q

Germ line mutations that have passed on to the offspring affect which cells of the offspring?

A

All of them!

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6
Q

Are DNA replication errors or transcription errors more common? Why?

A

Transcription errors

RNA polymerase doesn’t proof-read like DNA polymerase does

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7
Q

Do DNA replication errors or transcription errors have shorter-term effects? Why?

A

Transcription errors

  • Not all copies of RNA will contain errors
  • RNA molecules not inherited
  • RNA molecules quickly degraded
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8
Q

Germ line mutations in mitochondrial DNA that have passed on to the offspring affect which organs the most? Why?

A

Brain
Heart
Muscles

Because require most energy

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9
Q

What are the symptoms and signs of mitochondrial disease?

A

Dementia

Heart disease

Muscle weakness, wasting

Hearing loss

Abnormalities of vision

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10
Q

What type of mutation builds up in mitochondrial DNA? Why?

A

Somatic mutations

because mitochondrial DNA has limited ability to repair itself

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11
Q

What is a build up of somatic mutations in mitochondrial DNA associated with?

A

Ageing

Age-related disorders

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12
Q

What are some examples of age-related disorders?

A

Neurodegenerative diseases

Heart disease

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13
Q

What are the types of mutations in terms of heridity?

A

Spontaneous

Inherited

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14
Q

What are spontaneous mutations?

A

Newly arising mutation

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15
Q

What is an inherited mutation?

A

Mutation carried from parents to offspring

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16
Q

If a cell has trisomy for a chromosome that contains genes which slow down growth, what may this lead to?

A

Cell death

17
Q

If a cell has trisomy for a chromosome that contains genes which increase growth, what may this lead to?

A

Uncontrollable cell growth and division

leading to cancer

18
Q

What is a primordial follicle?

A

Primary oocyte surrounded by squamous epithelium

19
Q

How do numbers of primary oocytes change with age?

A

Decrease signifiantly from birth to puberty

20
Q

By what process are primary oocytes decreased in number from birth to puberty?

A

Apoptosis

21
Q

How does the mutation rate change with age? Why?

A

Increases with age

  • Spermatogonium been exposed to mutagens for longer
  • Primary oocytes spent longer in meiosis arrest
22
Q

Is the mutation rate in male or female gametes higher? Why?

A

Male gametes

  • More mitotic divisions in spermatogenesis than oogenesis
  • Spermatogonium continue dividing by mitosis throughout life
23
Q

The IVF embryo mutation rate is higher or lower than in vivo rate? Why?

A

Higher

No selection of fittest sperm to fertilise egg as occurs in vivo

24
Q

Why do primary oocytes decrease in number from birth to puberty?

A

Have defective genomes

Dying primary oocytes act as nurse cells for surviving primary oocytes

25
Q

What would happen to an embryo if it was exposed to mutagens?

A

Teratogenesis

Death

26
Q

What are the conditions of a germ line mutation to be inheritable?

A

Must not impair fertilisation

Must not impair gamete function

Allows production of adult who can reproduce as normal

27
Q

What do recessive mutations generally cause?

A

Loss of function

28
Q

What do recessive mutations generally affect?

A

Biochemical pathways

29
Q

What do dominant mutations generally cause?

A

Increased function

30
Q

What do dominnt mutations generally affect?

A

Structure - give structural abnormalities

31
Q

Are most mutations more likely to deactivate a protein or activate it? Why?

A

Deactivate protein

many more ways to do this than to do activate one

32
Q

Why do recessive alleles require the individual to be homozygous to be expressed in phenotype?

A

Because loss of function can be compensated by other allele being normal
no overall effect

33
Q

Why are dominant alleles expressed in phenotype in heterozygous individuals?

A

Increased function cannot be compensated for by other allele being normal
will have an effect

34
Q

What are miscarriages commonly caused by?

A

Chromosomal abnormalities

  • structural
  • numerical

Cell Biology and Genetics (32 decks)

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