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IMMS > Genetics > Flashcards

Genetics Flashcards

1
Q

How is DNA different from RNA? (4)

A 
DNA:
found in nucleus
double-stranded
deoxyribose sugar
A, G, T, C
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2
Q

How is RNA different from DNA? (4)

A 
RNA:
found in cytoplasm
single-stranded
ribose sugar
A, G, U, C
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3
Q

How does DNA replicate?

A

Semi-conservatively

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4
Q

What stages make up interphase?

A

G1, S, G2

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5
Q

What happens in G0?

A

Cell cycle arrest

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6
Q

What happens in G1?

A

Cellular contents (excluding chromosomes) are duplicated

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7
Q

What happens in S?

A

Chromosomes are duplicated

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8
Q

What happens in G2?

A

Duplicated chromosomes checked for errors, and repaired

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9
Q

What are the 3 checkpoints in the cell cycle?

A
  • G1 checkpoint
  • G2 checkpoint
  • M/ metaphase checkpoint
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10
Q

Mutation in what protein can cause cancer?

A

Tumour protein p53

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11
Q

What do proto-oncogenes do?

A

They code for growth factors

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12
Q

What do tumour suppressor genes do?

A

Inhibit cell division of damaged cells

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13
Q

When does DNA and organelles replicate?

A

Interphase

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14
Q

What happens during prophase? (2)

A

Chromatin condenses into chromosomes

Centrioles move to opposite poles of the cell

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15
Q

What happens during pro-metaphase? (2)

A

Nuclear envelope disappears

Spindle fibres form

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16
Q

What happens during metaphase? (2)

A

Chromosomes line up along equator

Spindle fibres attach to centromeres

17
Q

What happens during anaphase? (2)

A

Centromeres split

Spindle fibres contract, pulling sister chromatids to opposite poles of the cell

18
Q

What happens during telophase? (3)

A

Chromosomes unfold into chromatin
Nuclear membrane forms
Spindle fibres disintegrate

19
Q

What happens during cytokinesis?

A

Cells form cleavage and splits into two

20
Q

What happens during meiosis 1?

A

Homologous chromosomes separate

21
Q

What happens during meiosis 2?

A

Centromeres split and sister chromatids separate

22
Q

How is genetic diversity introduced during meiosis?

A

Prophase 1: crossing over w/in homologous pairs

Metaphase 1: independent assortment of homologous chromosomes

23
Q

What condition is an example of a non-disjunction?

A

Trisomy 21 - Down’s syndrome

24
Q

What condition is associated with the genotype 45XO?

A

Turner’s syndrome

25
Q

Define gonadal mosaicism (2)

A

Germ line mutation giving rise to affected offspring from unaffected parents.
Child is heterozygous in every cell

26
Q

Define somatic mutation

A

Postzygotic mutation that results in some cells being affected in the offspring

27
Q

How are the gamates in the affected individual of gonadal mosaicism affected?

A

Half carry mutation, half are don’t

28
Q

Are the gametes in the affected individual of somatic mosacism affected?

A

None of the genes carry the mutation

29
Q

Define genotype

A

Genetic makeup of an individual

30
Q

Define phenotype

A

Observable characteristic of an individual (env + genotype)

31
Q

Define locus

A

Fixed position of a gene on a particular DNA molecule

32
Q

Define allele

A

Different version of the same gene

33
Q

Define hemizygous

A

Gene carried on unpaired chromosome (eg X chromosome in male)

34
Q

Define penetrance

A

Proportion of ppl w/ a gene/genotype that show the expected phenotype

35
Q

Define variable expression

A

Individuals w/ the same genotype may show a different phenotype

36
Q

What is the reason for unaffected parents to produce affected children?

A
  • Gonadal mosaicism
  • Mother may have reduced penetrance/ variable expression
  • They don’t have the genes for it
37
Q

Define lyonisation

A

Process of X chromosome inactivation in every cell in a female

38
Q

What genetic inheritance does male-to-male transmission suggest?

A

Autosomal dominant

39
Q

Define anticipation

A

Gene defects that affect successive generations earlier and more severely

IMMS (2 decks)

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