Inheritance Patterns
Mendel Laws Semi Dominance
or more severe than
homozygotes display
a
greater phenotype
thepanchanteAortmenton
de
Segregationalleles
of
ofDominancearere flowersa
traits do not blend, one allele heterozygotes eg.
every
percharacteristic.
child
But passes
each
othercy An Bb uygousco Dominance
recessive phenotypes
one to
both dominant
"allelles segregate"
phenotypes
heterozygote phenotype expresses
e otypesT-weferstohow
blood type ABare codominant; O is recessive
eg. ABO
-DOoInanBReeteSSIva
=
both alleles carry
only" expressed
Autosomal Recessive
-
-recessive:
unaffected individual
-
carrying an inherited
camer:
individuals
-
recessive phenotype
Aminases
Punnett Square A
·cystic brosis
a
used for probability of offsprings
thalassemias (a3B)
Ad
·
Pedigree Symbols generation A AA o
sickle cell
unaffected unaffected
intolerance
male female MavrII a Ad ad ·hereditary tructose
affectedthe oculocutaneous albanism
of affected of consanguinous
·
(btw
disease
·lysosomal storage
marriage or
person relatives
dead proband disease
known
use
Identical twines
I person of interest glyogen storage
obligate care on
consultand: person seeking counseling ameristics
related members of a family It both parents are carriers, there is 50% chance
that the
kindred-genetically
the
first cousing degree of children will be carriers. There is a 25% chance that
relationship will be affected.
offspring
aunt nucle
·2/3 rule
parents grand an unaffected sibling of an affected individual has a t
parents
me 1st
risk of being a carrier.
2nd
niece
sibling
child ↳
only applies to AR pedigrees
3rd
nephew
↳s NOT used for unborn
children
halfsiblings
·vertical transmission is rare; typically
the disorder happens
·Males females are affected rolequal serenity frequency
disease colequal frequency
Autosomal Dominant they also transmit the
↳
Male Male transmission
offspring can occur
->
that the A
If one parent is affected, 50% chance
a ·
will be affected a An ad
Cristics An ad Consanguinity
degree
a
related 5 or less
No skipping generations
·
w mating between people by
vertical transmission plan
50% there is an increased probability the offspring will be
Males females affected with equal frequency ancestor
allele inherited from their common
(If this occurs, rule out X-Laked)
·
for an
·
male-male transmission
prior family
homozygous AR phenotype is
relationship, the more likely an
with
generation no
consanguinity is most likely involved.
generations before dieing out due to selection
against phenotype more common
Diseases
Miscarriages are
syndrome
mm
disease (ADPKDC
Ostogenesis
Imperfecta Polycystic Kidney menomum
dominant pattern
a recessive trait mimics a on pedigree
·
Familial hypercholesterolemia
the recessive allele is common in the population
Incomplete Penetrance
sickle cell vs malaria
Individuals with a genotype eg. An are not manifesting the
not shaded on pedigree
Heterozygote advantage -
corresponding phenotype. So box is
↳ could show up as 'skipped a
generation'
↳ severity here in NOT considered. attor
ment
with the same
Variable Expressivity
mating bow individuals phenotype but the
there is variation in phenotype among people carrying the same offspring do not have the phenotype
eg. siblings both sickle cell, one with higher serenity ↳homozygous mutations complement each other
genotype
causes: other genetic influences, gene environment interaction, -
random chance
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