AUTOSOMAL DOMINANT

INHERITANCE
• Autosomal dominant inheritance is a way a
genetic trait or condition can be passed down
from parent to child. One copy of a mutated
(changed) gene from one parent can cause the
genetic condition. A child who has a parent
with the mutated gene has a 50% chance of
inheriting that mutated gene. Men and
women are equally likely to have these
mutations and sons and daughters are equally
likely to inherit them.
 Autosomal dominant
• One mutated copy of
the gene in each cell
is sufficient for a person
to be affected by an
autosomal dominant
disorder. In some
cases, an affected
person inherits the
condition from an
affected parent

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 Autosomal dominant
• In others, the
condition may
result from a new
mutation in the gene
and occur in people
with no history of
the disorder in
their family.

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 Autosomal dominant
Huntington disease,
Marfan syndrome
Progeria

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 Huntington disease
Huntington’s disease (HD) is a fatal genetic disorder
that causes the progressive breakdown of nerve
cells in the brain. It deteriorates a person’s physical
and mental abilities during their prime working
years and has no cure. HD is known as the
quintessential family disease because every child of
a parent with HD has a 50/50 chance of carrying
the faulty gene. Today, there are approximately
30,000 symptomatic Americans and more than
200,000 at-risk of inheriting the disease.
http://hdsa.org/what-is-hd/
 Marfan syndrome
Marfan syndrome is a
genetic disorder that
changes the proteins
that help make healthy
connective tissue.
Connective tissue
holds all the body’s
cells, organs and tissue
together. It also plays
an important role in
helping the body grow
and develop properly.
This leads to problems
with development of
connective tissue
• Progeria-
(Hutchinson-Gilford
Progeria Syndrome)
• Is a rare gentic
condition that
causes a child’s
body to age fast.
Most kids with
progeria do not live
past age 13. The
disease affects both
sexes and all races
equally. It affects
about 1 in every 4
million births
worldwide.
AUTOSOMAL RECESSIVE INHERITANCE
• Is a way a genetic trait or condition can be
passed down from parent to child. A genetic
condition can occur when the child inherits
one copy of mutated (changed) gene from
each parent. The parents of a child with
autosomal recessive condition usually do not
have condition.
 Autosomal Recessive
• In autosomal recessive
inheritance, both copies of the gene
in each cell have mutations. The
parents of an individual with an
autosomal recessive condition each
carry one copy of the mutated gene,
but they typically do not show signs
and symptoms of the condition.
Autosomal recessive disorders are
typically not seen in every
generation of an affected family.

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 Autosomal Recessive

Cystic fibrosis, Sickle cell

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 Cystic Fibrosis
• Cystic fibrosis is an inherited disorder that causes
severe damage to the lungs, digestive system and
other organs in the body.
• Cystic fibrosis affects the cells that produce mucus,
sweat and digestive juices. These secreted fluids are
normally thin and slippery. But in people with cystic
fibrosis, a defective gene causes the secretions to
become sticky and thick. Instead of acting as a
lubricant, the secretions plug up tubes, ducts and
passageways, especially in the lungs and pancreas.
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
 Sickle Cell Anemia
• The term sickle cell
disease (SCD)
describes a group of
inherited red blood
cell disorders. People
with SCD have
abnormal hemoglobin,
called hemoglobin S
or sickle hemoglobin,
in their red blood cells.
https://www.nhlbi.nih.gov/health/health-
topics/topics/sca
 Sickle Cell Anemia
Ø It is an inherited form of
anemia- a condition in which
there aren’t enough healthy
red blood cells to carry
adequate oxygen throughout
your body.
Ø Normally, your red blood cells
are flexible and round moving
e a s i l y t h ro u g h yo u r b l o o d
vessels .
Ø It is a single-gene defect that
results in sickle-shaped red
bl ood c e l l s t hat ca n ca u s e
multisystem morbidity and
increased risk in early death.
 Genetics of Sickle Cell Disease
Ø The change in cell
structure arises
from a change in
the structure of
hemoglobin
ØA single change in
an amino acid
causes hemoglobin
to aggregate.
 Tay-Sachs Disease
• Is a fatal disorder in children (usually by age 5)
that causes a progressive degeneration of the
CNS. It is caused by the absence of an enzyme
Hexosaminidase A (or hex A). Without hex A,
fatty substances called gangliosides build up to
toxic level on the nerve cells in the body,
particularly the brain and spinal cord. The
process begins early in pregnancy when the
baby is developing. It is not apparent until
several months after birth.
 X-linked dominant
inheritance
• X-linked dominant inheritance, sometimes reffered
to as X-linked Dominance, is a mode of genetic inheritance
by which a dominant gene carried on the X chromosome.
As an inheritance pattern, it is less common than the X-
linked recessive type. In most cases, males experience
more severe symptoms of the disorder than females. A
characteristic of X-linked inheritance is that fathers cannot
pass X-linked traits to their sons (no male-to-male
transmission).

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
X-linked dominant disorder
• For an X-linked dominant disorder: If the
father carries the abnormal X gene, all of his
daughters will inherit the disease and none of
his sons will have the disease. That is because
daughters always inherit their father’s X
chromosome. If the mother carries the
abnormal X gene, half of all their children
(daughters and sons) will inherit the disease
tendency.
 Fragile X Syndrome
Fragile X syndrome (FXS) is a
genetic condition that causes
intellectual disability, behavioral
and learning challenges and
various physical characteristics.
Though FXS occurs in both
genders, males are more
frequently affected than females,
and generally with greater severity.
Life expectancy is not affected in
people with FXS because there are
usually no life-threatening health
concerns associated with the
condition.
Also called as Martin-Bell
Syndrome or Marker X Syndrome
https://fragilex.org/learn/
 FRAGILE X DISORDER
• Fragile X Syndrome (FXS) is a genetic
disorder caused by changes in a gene
called Fragile X Messenger
Ribonucleoprotein 1 (FMR1) gene
located on the X chromosome at Xq27.
FRM1 usually makes a protein called
FMRP that is usually needed for brain
development. People who have FXS
do not make this protein.
 X-linked Recessive
• X-linked recessive disorders are also caused by
mutations in genes on the X chromosome. In males (who
have only one X chromosome), one altered copy of the
gene in each cell is sufficient to cause the condition. In
females (who have two X chromosomes), a mutation
would have to occur in both copies of the gene to cause
the disorder. Because it is unlikely that females will have
two altered copies of this gene, males are affected by X-
linked recessive disorders much more frequently than
females. A characteristic of X-linked inheritance is that
fathers cannot pass X-linked traits to their sons (no male-
to-male transmission). https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 X-linked Recessive

Hemophilia, Fabry
disease

https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
 colorBlindness/ color vision
deficiency
• Mutations in the OPN1LW, OPN1MW and OPN1SW
genes cause the forms of color vision. The proteins
produced from these genes play essential roles in color
vision. Genetic changes involving the OPN1LW or
OPN1MW gene caused red-green color vision defects.
Thses changes lead to an absence of L or M cones or to
the production of abnormal opsin pigments in these
cones that affect red-green color vision. Red-green
color blindness simple means that a person cannot
distinguish shades of red and green (usually-blue-
green). Their visual acuity is normal.
Fabry disease is a rare genetic disease with a deficiency of an
enzyme called alpha-galactosidase A. The disease affects
many parts of the body including the skin, eyes,
gastrointestinal system, kidney, heart, brain, and nervous
system.
 PEDIGREES
• Chart showing genetic relationships between members of a
family

• Squares represent males, circles females

• Colour shows infected person, ½ shaded shows carrier