clinical genetics and ethics Flashcards
types of cytogenetics
chromosome analysis
FISH analysis
molecular techniques
types of molecular techniques
MLPA
QF-PCR
array CGH
what does MLPA stand for?
multiplex ligation-dependent probe amplification
what does CGH stand for?
comparitive genomic hybridization
cytogenetics vs molecular genetics
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
2 types of cytogenetics
constitutional
cancer
Giemsa banding method
trypsin pre-treatment
PHA addition and synchronisation
types of constitutional cytogenetics
pre natal
post natal
foetal
SNP array
trypsin
proteolytic enzyme stripping away scaffold protein
dark region G-banding
gene-poor regions
light G-banding
gene-rich regions
Williams syndrome
feeding difficulty
‘elfin’ features
short
renal/ cardiac problems
what does whole genome sequencing cover?
error rates
telomeres
mosaicism
copy number variation
structural variants
imprinted genes
alternative splicing
inadequate depth coverage
Atopic eczema
monogenic disease affected by immunology, genetics and environment
mutations in FLG gene
associated w lack of filaggrin
profilaggrin
skin barrier, protecting against water loss, mechanical damage, allergen entry/exit, UV, microbial infection
what model did Francis Galton come up with?
the polygenic inheritance model that ‘children regress to mediocrity’
BYH1
gene for acute traumatic frontal haematoma
UK biobank health surveillance polygenic risk score pro/con
:) enable prevention
:( false positives
epigenetics
changes to the genome transmissible to generations in future, affecting gene expression not gene sequence
epigenetics examples
microRNA’s
histone modification
DNA methylation
DNA methylation
biomarker for epigenetic states when methyl group is added to cytosine
covalent change preserved during replication
effects of DNA methylation
affect binding of transcription /enhancer/promoter factors
possible reason for gestational limit
risk of abnormality increases with age
whole genome sequencing pros/cons
:) prevention
:( distress/ insurance bias/ DNA theft
human tissue act 2006
tissue/ organ holding sites require license and subject to external regulation
illegal to hold samples for DNA extraction, exempt once DNA extracted
data protection act 1998
research w/o consent permissible under certain conditions
section 251 NHS act 2006
confidentiality set aside if data use consent isn’t practicable
article 8 European convention on human rights
intrusion permissible if proportionate, legitimate and necessary
