Reviewer

Mendelian Inheritance X-linked Dominant Inheritance X-linked Dominant Inheritance

X-linked Recessive Inheritance X-linked Recessive Inheritance

X LINKED RECESSIVE
- female possessing one x linked recessive trait
(carrier)
- Will not manifest the Sx. But rather pass on the trait
to the next generation.
- All Male with recessive traits / mutation will be
affected.

Example diseases associated with X Linked

recessive :

Duchenne Muscular Dystrophy

- progressive muscular degeneration. ( NO
DYSTROPHIN)
- Muscle weakness as early as 3 y/o

Hemophillia
- blood does not clot
- Due to lack of blood clotting factor vii that
produces fibrin

Color blindness or color vision deficiency

- deficiency in the way we see/ percieve color
- Red yellow green

Mary Rose B. Fabian Reviewer credits: Mr. Rey Pineda

 Reviewer
AUTOSOMAL INHERITANCE - a pattern
of inheritance in which the transmission of traits
depends on the presence or absence of certain
alleles on the autosomes. The pattern may be
dominant or recessive, and males and females are
usually affected with equal frequency.
.
AUTOSOMAL DOMINANT.
- mutated gene is a dominant gene located on one of
the non sex chromosomes (autosomes)
- Needed only 1 mutated gene to be affected
- Male - 50% chance of having an affected child
with one mutated gene AUTOSOMAL RESESSIVE
- - 50% of having unafffected child with two - 2 copies of a dse/ traits are required for an
normal (recessive) gene. individual to be susceptible to exxpressing the
phenotype.
Example Disorder - Typically the parents are not affected, ONLY
CARRIERS
Huntington' s Dse - With each pregnancy :
- progressive dementia ( a wide range of Sx asstd There is 1:4 or 25% chance of the offsrping will
with decline memory and thinking skils) , inherit two copies of the dse.
choreiform movemet ( repetitive , rapid jerky movt There is 1:2 or 50% will inherit and copy the dse
that appears well coordinated), athetosis ( slow, There is 1:4 or 25% will not copy, will not express ,
involuntary, convoluted, writhinf movement of not at risk, Normal
fingers, hand , toes , feet) - M=F

Neurofibromatosis 1
- multiple neurofiromas ( Cafe au lait spots)
- Malignant
- Increaze risk of tumor
- Rhabdomyosarcoma > cancer cell
developed in skeletal muscle
- Leukemia

Mary Rose B. Fabian Reviewer credits: Mr. Rey Pineda

 Reviewer

Mary Rose B. Fabian Reviewer credits: Mr. Rey Pineda