Chapter 11 Complex Inheritance

Section 11-1
Bio30
NWRC
Section 11-1 Recessive Genetic
Disorders
• Two copies of the gene must be mutated for a
person to be affected by a recessive disorder.
An affected person usually has unaffected
parents who each carry a single copy of the
mutated gene (and are referred to as carriers).
Two unaffected people who each carry one
copy of the mutated gene have a 25% chance
with each pregnancy of having a child affected
by the disorder
Autosomal Recessive Disorders
• Both parents are carriers
Autosomal Recessive Disorders
• One parent is a carrier – one is normal
Autosomal Recessive Disorders
• One parent has condition – one is normal
Recessive Disorders
• Cystic fibrosis (CF) is caused by a
defect in a gene called the cystic
fibrosis transmembrane
conductance regulator (CFTR) gene.
This gene makes a protein that
controls the movement of salt and
water in and out of the cells in your
body. In people with CF, the gene
does not work effectively. This
causes the thick, sticky mucus and
very salty sweat that are the main
features of CF. Each of us inherits
two CFTR genes, one from each
parent.
• Children who inherit an abnormal
CFTR gene from each parent will
have CF.
• Children who inherit an abnormal
CFTR gene from one parent and a
normal CFTR gene from the other
parent will not have CF. They will be
CF carriers.
Recessive Disorders
• AlbinismThe word "albinism"
refers to a group of inherited
conditions. People with albinism
have little or no pigment in their
eyes, skin, or hair. They have
inherited genes that do not make
the usual amounts of a pigment
called melanin.
• Albinism affects people from all
races. Most children with albinism
are born to parents who have
normal hair and eye colour for their
particular ethnic backgrounds.
Recessive Disorders- galactosemia
Recessive Disorders- Tay Sachs
Disease
• Tay-Sachs disease is a rare inherited
disorder that causes progressive
destruction of nerve cells in the brain
and spinal cord (the central nervous
system).
• The most common form of Tay-Sachs
disease begins in infancy. Infants with
this disorder typically appear normal
until the age of 3 to 6 months, when
development slows and muscles used
for movement weaken. Affected infants
lose motor skills such as turning over,
sitting, and crawling. They also
develop an exaggerated startle
reaction to loud noises. As the disease
progresses, children with Tay-Sachs
disease experience seizures, vision
and hearing loss, mental retardation,
and paralysis.
 Dominant Genetic Disorders
• Only one mutated copy of the gene is
needed for a person to be affected by an
dominant disorder. Each affected person
usually has one affected parent. There is a
50% chance that a child will inherit the
mutated gene.
• There are no carriers
 Dominant Genetic Disorders
• One parent has condition and the other
does not
 Dominant Genetic Disorders
• Both parents have a condition
Pedigree Charts
 Assessment
1.
2.
• Huntingtons (nervous
system disorder)and
Achondoplasia
(dwarfism) are both
Dominant
• The affected parent has a
single defective gene (D),
which dominates its normal
counterpart (n). Each child has
a 50 percent risk of inheriting
the faulty gene and the
disorder.
 3.
• They cannot since albinos would only
have recessive alleles.
• Here’s an albino squirrel
 4.

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