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MB1: Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

what is a polymorphism

A

variation in the genome with frequency >1%

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2
Q

what is a mutation

A

gene change causing genetic disorder

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3
Q

what are SNPs

A

single nucleotide polymorphisms

genetically determined differences that usually do not have any effect on phenotype

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4
Q

what are CNVs

A

copy number variations

very prevalent and can be devastating

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5
Q

long arm

A

q

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6
Q

short arm

A

p

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7
Q

what is translocation

A

rearrangement of genetic material between chromosomes

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8
Q

is a robersonian translocation balanced or unbalanced

A

balanced

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9
Q

do robertsonian translocations show more phenotype in children than parents

A

yes

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10
Q

risk of robertsonian translocation

A

miscarriage

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11
Q

smaller translocations are more/less likely to cause miscarriage and more/less likely to be damaging

A

less

more

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12
Q

larger translocations are more/less likely to cause miscarriage and more/less likely to be damaging

A

more

less

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13
Q

47XY+21

A

down’s syndrome

trisomy 21

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14
Q

47XY+14

A

trisomy 14

miscarriage

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15
Q

47XY+18

A

edward syndrome

trisomy 18

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16
Q

45X

A

turner sydrome

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17
Q

47XXY

A

klinefelter syndome

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18
Q

what is aneuploidy

A

whole extra or missing chromosome

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19
Q

why is X chromosome aneuploidy better tolerated than others

A

one is inactivated

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20
Q

what is mosaicism

A

different cells have a different genetic makeup due to point mutation of chromosome abnormality

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21
Q

what is an insertion/deletion mutation

A

base is inserted or deleted into sequence which can cause a frame shift mutation

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22
Q

what is a missense mutation

A

base substituted for another, may reduce protein function

23
Q

what is a nonsense mutation

A

base substituted for one that codes for a stop codon

24
Q

what is a silent mutation

A

one that has no effect on protein synthesised

25
Q

what is a triplet expansion mutation

A

replication of a trinucleotide

26
Q

what is the standard normal comparison

A

wild type - US caucasian male

27
Q

what is penetrance

A

likelihood of having the disorder if you have the mutation

28
Q

what is penetrance in mendelian disease

A

100%

29
Q

what is mendelian disease

A

disease caused by a single gene

30
Q

Autosomal dominant

A

50% risk if one parent affected
males and females, all generations equally affected
if a copy is passed on they will be affected

31
Q

autosomal recessive

A

2 copies required
25% chance is both parents have the gene
more common consanguineous families
less generations affected

32
Q

X- linked

A

more common in males
female carriers do not show major features
males cannot pass it on
50% males affected, 50% females carriers
son cannot get it mutation from dad

33
Q

Mitochondrial

A

inherited maternally

34
Q

what is imprinting

A

differences in gene expression depending on whether condition is maternally or paternally inherited

35
Q

what is heteroplasmy

A

different daughter cells have different number mutant mitochondria, severity dependent on number mitochondria

36
Q

Array CGH

A

first line

deletions/duplications

37
Q

what is FISH used for

A

detecting specific part of chromosome and abnormal protein numbers

38
Q

PCR

A

amplified piece of genome to look for mutations

39
Q

NGS

A

assess entire genome

40
Q

why are cancer cells heterogenous

A

they show mosaicism

41
Q

what is a germline mutation

A

inherited cancer genes

42
Q

what is a somatic mutation

A

non inherited cancer genes that may be altered due to carcinogens

43
Q

what is a driver mutation

A

mutations driving carcinogenesis

44
Q

what is a passenger mutation

A

mutations due to an unstable tumour

45
Q

what is epigenetics

A

study of changes in gene expression without sequencing change

46
Q

what are the consequences of methylation?

A

DNA coils around histones tighter so trancription halted

in some cases tumour suppressors are not transcribed

47
Q

what are oncogenes activated by

A

proto-oncogenes

48
Q

what are proto-oncogenes activated by

A

point mutations
gene amplifications
translocations

49
Q

name a point mutation common in melanoma

A

BRAF

50
Q

name a gene amplification causing breast cancer formation

A

HER2

51
Q

name a translocation causing CML

A

Philadelphia chromosome

52
Q

is one copy of a mutated tumour suppressor enough to cause cancer?

A

no, there must be two

53
Q

tumour suppressor mutations are dominant/recessive

A

recessive

54
Q

features suggestive of inherited cancers

A

1st/2nd degree relatives with it
early onset
bilateral tumours in paired organs

MB1: Principles (10 decks)

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