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PRINCIPLES > GENETICS > Flashcards

GENETICS Flashcards

1
Q

end to end of DNA replication

A

5 to 3

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2
Q

order of cell cycle

A

G1 - contents duplicate
S - synthesis
G2 - prep for M phase
M - mitosis and cytokinesis

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3
Q

meiosis form how many haploid cells

A

4

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4
Q

phases of mitosis

A

prophase - condensation
anaphase - spindles attach + align
metaphase - centromeres divide
telophase - membranes form, fibres disappear

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5
Q

example of gene variation

A

single nucleotide polymorphism
deletion
duplication

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6
Q

example of sequence variations

A

change in promotor sequence

change in exon

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7
Q

normal female

A

46XX

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8
Q

p arm

A

short arm

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9
Q

q arm

A

long arm

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10
Q

metacentric

A

equal arms

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11
Q

telocentric

A

distal centromere

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12
Q

acrocentric

A

short p arm

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13
Q

trisomy aneuploidy

A

extra chromosome

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14
Q

monosomy aneuploidy

A

missing chromosome

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15
Q

which chromosomes can be robertsonian

A 
13
14
15
21
22
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16
Q

sex monosomy

A

Turner’s

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17
Q

down’s - genome

A

46 XY + 21 trisomy

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18
Q

edwards genome

A

46XY + 18 trisomy

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19
Q

somatic mosaicism

A

all cells mutate but repairs exist

only daughter cells

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20
Q

what causes recurrance of autosomal dominant disease?

A

gonadal mosaicism

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21
Q

FISH

A

fluorensence in situ hybridisation - detects genetic abnormality

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22
Q

what is first line genetic testing

A

aCGH

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23
Q

does aCGH detect balanced rearrangement

A

no

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24
Q

HER2 amplification indicates use for

A

monoclonal antibodies

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25
Q

philidelphia chromosome requires what drug

A

imatinib - tyrosine kinase inhibitor

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26
Q

promoter mutation causes

A

no/abnormal protein

27
Q

short protein is caused by

A

stop codon

28
Q

different/no function protein from

A

altered amino acid

29
Q

substitution causes

A

missense

30
Q

insertion causes

A

frameshift

31
Q

>

A

substitution

32
Q

TER

A

stop codon

33
Q

c.

A

base change

34
Q

protein change

A

p.

35
Q

issue with next g sequencing

A
  1. pricey

2. have to filter poly vs disease mutation

36
Q

penetrance of mendelian disorders

A

HIGH

37
Q

penetrance is

A

likelihood of getting disease if you have the mutations

38
Q

risk to child of autosomal dominant

A

50% from affected parent

39
Q

huntingtons is…

A

autosomal dominant

40
Q

examples of autosomal recessive…

A

CF

sickle cell anaemia

41
Q

x linked disease - effect on sons and daughters

A

50% affected

50% carry

42
Q

who cannot carry X linked to sons

A

males

43
Q

who gets haemophillia (factor VIII and IX coag deficiency)

A

males - X-linked

44
Q

what is DNA methylation a form of and what does it result in

A

non-mendelian inheritence

modifies histones and represses transcription

45
Q

imprinting disease has a role in…

A

embryonic and placental development

46
Q

symptoms of angelman’s (15)

A

happy demeanor
learning and developmental disability
ataxia

47
Q

when do heteroplasmic disorders appear

A

adulthood due to accumulation

48
Q

heteroplasmy:

A

different mutant contents in daughter cells

49
Q

cancer is gonadal mosaicism? t/f

A

f - somatic

50
Q

retinoblastoma - mode of inheritance

A

autosomal dominant

51
Q

penetrance of Rb

A

variable

52
Q

combination of inherited and acquired mutation may result in?

A

The second hit of the two hit hypothesis

53
Q

Rb is what kind of gene

A

tumour supressor

54
Q

2 losses of RB causes what

A

tumour

55
Q

how are oncogenes activated?

A
  • duplication of gene
  • gene promoter
  • change in amino acid sequence
56
Q

what is the central dogma

A
  • transcription
  • splicing
  • translation
  • post translational modification
57
Q

how is BRAF mutation activation

A

activation of KRAS pathway

58
Q

What is HER2

A

human epidermal growth factor receptor 2 - oncogene for 1/5 breast cancerss

59
Q

drug for HER2 cancers

A

trastuzumab

60
Q

drug for philadelphia chromosome (22 abnormality - leukemia)

A

imatinib

61
Q

basic RAS pathway

A

Ras to BRAF to MEK to ERK to nucleus activating proliferation, survival, metastasis

62
Q

what can cause a mutation in DNA repair pathways

A

Mismatch repair pathway

63
Q

what does the common variant hypothesis say?

A

mendelian = high penetrance, low occurance

common pathology = low penetrance, high occurance

64
Q

what is cancer behaviour

A

function of somatic mutation

PRINCIPLES (11 decks)

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