Please enable JavaScript.
Coggle requires JavaScript to display documents.
Molecular basis of genetic disease (factors that affect inheritance…
Molecular basis of genetic disease
A. genes to proteins
genetic changes :
single gene
types of mutations (review)
missense
nonsense
del/dup
frameshift
intronic
silent
clinical significance of single gene changes
loss of function
gain of function
rate of expression
protein structure (review, inc functional domains)
eg: CFTR protein
polymorphism vsvariant vs mutation
somatic vs germline
chromosomal
Cytogenetics Module
gene expression (review basic principle)
protein structure
functional domains
regulation of gene expression
chromatin remodelling
microRNA
intron splicing and alternate splicing
B. Autosomal recessive conditions
inheritance patterns and pedigree
calculating risks
eg: SMA
symptoms
case study
treatment
inheritance
eg. SMA
eg. beta globin gene changes (thal vs SCD)
symptoms
genetic variation and expression
treatments
autosomal dominant conditions
inheritance patterns
calculating risks
penetrance
variable expressivity
genetic modifiers
eg:
Sex-linked conditions
Y-linked
X-linked
X-linked recessive (eg DMD)
X-linked dominant
Sex-linked and sex-influenced
X inactivation
Genomic imprinting (mention only) (link to cyto for detail)
factors that affect inheritance patterns
epistasis
lethal genotypes
multiple alleles
incomplete dominance
pleiotropy
penetrance
variable expressivity
phenocopies
pseudogenes