Rush Etiology and Autosomal Dominant Flashcards
(32 cards)
disease derived from parents
hereditary disoeder
disease transmitted via gametes generations
familial disorder
disease present at birth
congenital disorders
substitution of a sngl nucleotide base resulting in replagekent of single amino acuds in oritein molecule
point mutations or missense mutation
insertion ir deletion of one or two base pairs that change dna reading frame
fraemshift mutation
amplification of 3 sequential nucleotides
trinucleotide repeat mutation
what mutation is this:
the fat cat
the fat car
point shift mutation
what mutation is this:
the fat cat
the fac at.
frameshift mutation
what mutation is this:
the fat cat
the fat sad cat
insertion
what mutation is this:
the fat cat
the cat
deletion
mutation of a single gene and are hereditary and familial
mendelian disorder
involved multiple genes as well as envjrojmental influences ir sometimes called multi factorial disease
complex disorders
changes in the number in the number of structure of chromosomes and a lot of developmental abnormalities are from this
chromosome abnormalities
Mendelian disorder:
Prevalence
Penetrance
Defect
Uncommon
High
Single Gene
Chromosomal Disorder:
Prevalence
Penetrance
Defect
Uncommon
High
Chromosome structure/function
Complex Multigenic Dx
Prevalence
Penetrance
Defect
Common
Low
Polymorphism
one dominant allele is enough to produce what
autosomal dominant heterozygous phenotype
only one parent is usually affected
autosomal dominant disorders
characteristics of autosomal dominant disorders
one dominant allele
one parent
variable expression
type of variable expression of autosomal dominant
penetrance
expressivity
var exp proportion of those who inherit gene and express phenotype
penetrance
variability in phnotupic expression among inheritors
expressivity
in penetrance if gene a is purple and the offerings are flowers
3 white
3 lavender
4 deep purple
how much is its penetrance?
70%
examples of autosomal dominant disorders for nervous system
huntjngtons
neurofibromatosis
myotonic dystrophy
tuberous sclerosis
