clinical genetics and ethics

Question 1

types of cytogenetics

Answer 1

chromosome analysis
FISH analysis
molecular techniques

Question 2

types of molecular techniques

Answer 2

MLPA
QF-PCR
array CGH

Question 3

what does MLPA stand for?

Answer 3

multiplex ligation-dependent probe amplification

Question 4

what does CGH stand for?

Answer 4

comparitive genomic hybridization

Question 5

cytogenetics vs molecular genetics

Answer 5

both liase w clinical genetics techniques
cyto researches whole genome vs molec is specific
cyto 5Mb resolution vs 1Bp resolution
cyto uses cell cultures/ microscopy vs DNA extraction and PCR

Question 6

2 types of cytogenetics

Answer 6

constitutional
cancer

Question 7

Giemsa banding method

Answer 7

trypsin pre-treatment
PHA addition and synchronisation

Question 8

types of constitutional cytogenetics

Answer 8

pre natal
post natal
foetal
SNP array

Question 9

trypsin

Answer 9

proteolytic enzyme stripping away scaffold protein

Question 10

dark region G-banding

Answer 10

gene-poor regions

Question 11

light G-banding

Answer 11

gene-rich regions

Question 12

Williams syndrome

Answer 12

feeding difficulty
‘elfin’ features
short
renal/ cardiac problems

Question 13

what does whole genome sequencing cover?

Answer 13

error rates
telomeres
mosaicism
copy number variation
structural variants
imprinted genes
alternative splicing
inadequate depth coverage

Question 14

Atopic eczema

Answer 14

monogenic disease affected by immunology, genetics and environment
mutations in FLG gene
associated w lack of filaggrin

Question 15

profilaggrin

Answer 15

skin barrier, protecting against water loss, mechanical damage, allergen entry/exit, UV, microbial infection

Question 16

what model did Francis Galton come up with?

Answer 16

the polygenic inheritance model that ‘children regress to mediocrity’

Question 17

BYH1

Answer 17

gene for acute traumatic frontal haematoma

Question 18

UK biobank health surveillance polygenic risk score pro/con

Answer 18

:) enable prevention
:( false positives

Question 19

epigenetics

Answer 19

changes to the genome transmissible to generations in future, affecting gene expression not gene sequence

Question 20

epigenetics examples

Answer 20

microRNA’s
histone modification
DNA methylation

Question 21

DNA methylation

Answer 21

biomarker for epigenetic states when methyl group is added to cytosine
covalent change preserved during replication

Question 22

effects of DNA methylation

Answer 22

affect binding of transcription /enhancer/promoter factors

Question 23

possible reason for gestational limit

Answer 23

risk of abnormality increases with age

Question 24

whole genome sequencing pros/cons

Answer 24

:) prevention
:( distress/ insurance bias/ DNA theft

Question 25

human tissue act 2006

Answer 25

tissue/ organ holding sites require license and subject to external regulation
illegal to hold samples for DNA extraction, exempt once DNA extracted

Question 26

data protection act 1998

Answer 26

research w/o consent permissible under certain conditions

Question 27

section 251 NHS act 2006

Answer 27

confidentiality set aside if data use consent isn’t practicable

Question 28

article 8 European convention on human rights

Answer 28

intrusion permissible if proportionate, legitimate and necessary