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molecular basis of genetic disease - CF (CF (Story line) (CFTR protein…
molecular basis of genetic disease - CF
genetic disease definition
genetic variant
non-coding
ncRNAs
mitochondrial - tRNAs
protein coding- effect of mutation on protein
novel property - eg SCD in next module
altered expression
wrong place (ectopic)
wrong time (heterochronic)
GOF
LOF
types (review - covered in intro module, so just link to something?
chromosomal
intragenic
substitution
slient
missense
nonsense
deletion/insertion
frameshift
splice site
CNVs
CF (Story line)
symptoms
CFTR protein
function
structure
functional domains
CFTR gene
variants - LOF
Class 1
Class II
Class III
Class IV
Class V
Class VI
phenotype variation
genotype correlation (total vs partial LOF or production)
response to therapeutics
genetic modifiers
Variation in disease: genotype-phenotype relationship
locus heterogeneity
allelic heterogeneity
genetic modifiers