GENETICS

Question 1

end to end of DNA replication

Answer 1

5 to 3

Question 2

order of cell cycle

Answer 2

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

Question 3

meiosis form how many haploid cells

Answer 3

4

Question 4

phases of mitosis

Answer 4

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

Question 5

example of gene variation

Answer 5

single nucleotide polymorphism
deletion
duplication

Question 6

example of sequence variations

Answer 6

change in promotor sequence

change in exon

Question 7

normal female

Answer 7

46XX

Question 8

p arm

Answer 8

short arm

Question 9

q arm

Answer 9

long arm

Question 10

metacentric

Answer 10

equal arms

Question 11

telocentric

Answer 11

distal centromere

Question 12

acrocentric

Answer 12

short p arm

Question 13

trisomy aneuploidy

Answer 13

extra chromosome

Question 14

monosomy aneuploidy

Answer 14

missing chromosome

Question 15

which chromosomes can be robertsonian

Answer 15

13
14
15
21
22

Question 16

sex monosomy

Answer 16

Turner’s

Question 17

down’s - genome

Answer 17

46 XY + 21 trisomy

Question 18

edwards genome

Answer 18

46XY + 18 trisomy

Question 19

somatic mosaicism

Answer 19

all cells mutate but repairs exist

only daughter cells

Question 20

what causes recurrance of autosomal dominant disease?

Answer 20

gonadal mosaicism

Question 21

FISH

Answer 21

fluorensence in situ hybridisation - detects genetic abnormality

Question 22

what is first line genetic testing

Answer 22

aCGH

Question 23

does aCGH detect balanced rearrangement

Answer 23

no

Question 24

HER2 amplification indicates use for

Answer 24

monoclonal antibodies

Question 25

philidelphia chromosome requires what drug

Answer 25

imatinib - tyrosine kinase inhibitor

Question 26

promoter mutation causes

Answer 26

no/abnormal protein

Question 27

short protein is caused by

Answer 27

stop codon

Question 28

different/no function protein from

Answer 28

altered amino acid

Question 29

substitution causes

Answer 29

missense

Question 30

insertion causes

Answer 30

frameshift

Question 31

>

Answer 31

substitution

Question 32

TER

Answer 32

stop codon

Question 33

c.

Answer 33

base change

Question 34

protein change

Answer 34

p.

Question 35

issue with next g sequencing

Answer 35

1. pricey | 2. have to filter poly vs disease mutation

Question 36

penetrance of mendelian disorders

Answer 36

HIGH

Question 37

penetrance is

Answer 37

likelihood of getting disease if you have the mutations

Question 38

risk to child of autosomal dominant

Answer 38

50% from affected parent

Question 39

huntingtons is...

Answer 39

autosomal dominant

Question 40

examples of autosomal recessive...

Answer 40

CF | sickle cell anaemia

Question 41

x linked disease - effect on sons and daughters

Answer 41

50% affected | 50% carry

Question 42

who cannot carry X linked to sons

Answer 42

males

Question 43

who gets haemophillia (factor VIII and IX coag deficiency)

Answer 43

males - X-linked

Question 44

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

Answer 44

non-mendelian inheritence | modifies histones and represses transcription

Question 45

imprinting disease has a role in...

Answer 45

embryonic and placental development

Question 46

symptoms of angelman's (15)

Answer 46

happy demeanor learning and developmental disability ataxia

Question 47

when do heteroplasmic disorders appear

Answer 47

adulthood due to accumulation

Question 48

heteroplasmy:

Answer 48

different mutant contents in daughter cells

Question 49

cancer is gonadal mosaicism? t/f

Answer 49

f - somatic

Question 50

retinoblastoma - mode of inheritance

Answer 50

autosomal dominant

Question 51

penetrance of Rb

Answer 51

variable

Question 52

combination of inherited and acquired mutation may result in?

Answer 52

The second hit of the two hit hypothesis

Question 53

Rb is what kind of gene

Answer 53

tumour supressor

Question 54

2 losses of RB causes what

Answer 54

tumour

Question 55

how are oncogenes activated?

Answer 55

- duplication of gene - gene promoter - change in amino acid sequence

Question 56

what is the central dogma

Answer 56

- transcription - splicing - translation - post translational modification

Question 57

how is BRAF mutation activation

Answer 57

activation of KRAS pathway

Question 58

What is HER2

Answer 58

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

Question 59

drug for HER2 cancers

Answer 59

trastuzumab

Question 60

drug for philadelphia chromosome (22 abnormality - leukemia)

Answer 60

imatinib

Question 61

basic RAS pathway

Answer 61

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

Question 62

what can cause a mutation in DNA repair pathways

Answer 62

Mismatch repair pathway

Question 63

what does the common variant hypothesis say?

Answer 63

mendelian = high penetrance, low occurance | common pathology = low penetrance, high occurance

Question 64

what is cancer behaviour

Answer 64

function of somatic mutation