• diagrams showing the ancestral relationships and

transmission of genetic traits over several generations in a

family

• The individual in the pedigree that led to the construction

of the pedigree.

• A trait whose alleles that control it are found in the

autosomes

• For every trait governed by a pair of alleles, these alleles

segregate or separate during gamete formation in meiosis

• A pair of alleles for one trait will segregate or separate

independently of another pair of alleles for another trait
during meiosis

• gene pair an individual carries for a particular trait

symbolized with a pair of letters.
 GENOTYPE
For a diploid organism with two alleles in a given gene pair, genotypes
may be written as:
i.Homozygous dominant, i.e. with two dominant alleles (DD)
ii. Heterozygous, i.e. with a dominant and recessive allele (Dd).
The individual will show the dominant phenotype.
iii. Homozygous recessive, i.e. with two recessive alleles (dd)
• observable trait of an individual based on its genotype

• A trait that is expressed due to specific environmental

conditions (i.e. having hair that is dyed of a different
color) and is not due to the genotype.

• derived from a single fertilization event. After the first

cleavage or cell division of the zygote, the cells or
blastomeres separate and become independent
blastocysts implanted in the mother’s uterus

• Twins that are derived from separate fertilization

events (two eggs fertilized by two sperms) within the
fallopian tube, resulting in two separate zygotes; also
known as dizygotic twins
Chapter 4 Human
Heredity by Michael
Cummings ©2006
Brooks/Cole-Thomson
Learning
 Modes of Inheritance
A pair of alleles can show one of three modes
of inheritance. Augustinian monk and
botanist Gregor Mendel (1822–1884)
demonstrated these patterns of inheritance
using pea plant crosses. The modes of
inheritance are autosomal dominant ,
autosomal recessive, and X-linked.
 Autosomal Dominant
This pedigree shows an autosomal
dominant trait or disorder. Autosomal
means the gene is on a chromosome
that is not a sex chromosome (X or Y).
Not all of the offspring inherited the
trait because their parents were
heterozygous and passed on two
recessive genes to those that do not
show the trait. None of the offspring of
two recessive individuals have the trait.
Examples of autosomal dominant
disorders are Huntington’s disease and
Marfan syndrome.
 Autosomal Dominant
• Males and females have the same risk of inheriting the disease
- Only one copy of allele is necessary for an individual to be susceptible
to expressing phenotype
- 50% chance of inheritance
- At least one parent who carries the disease allele
- Also called as vertical inheritance because of the transmission from
parent to offspring
- The proportion of affected males should be equal to the proportion of
affected females
- Male-male transmission can be observed.
- Ex. Huntington disease and myotonic muscular dystrophy
 MARFAN
SYNDROME
 MARFAN SYNDROME
• The most serious complications of Marfan syndrome involve the heart and
blood vessels. Marfan syndrome can affect the aorta, the main blood vessel
that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta
can stretch and grow weak.
• If the aorta stretches and grows weak, it may tear or burst and leak blood.
This condition is called aortic dissection. It's very serious and can lead to
severe heart problems or even death.
• Marfan syndrome has no cure, but treatments can help delay or prevent
complications. Treatments include medicines, surgery, and other therapies.
Limiting certain activities, or changing how you do them, may help reduce
the risks to the aorta, eyes, and joints.
• The type of treatment you receive depends on how the condition is affecting
your body.
HUNTINGTON’S
SYNDROME
 HUNTINGTON’S SYNDROME
• Huntington's disease (HD), also known as Huntington's chorea, is an
inherited disorder that results in death of brain cells.
• The earliest symptoms are often subtle problems with mood or mental
abilities.
• A general lack of coordination and an unsteady gait often follow.
• The movement disorders associated with Huntington's disease can
include both involuntary movement problems and impairments in
voluntary movements, such as: Involuntary jerking or writhing
movements (chorea) Muscle problems, such as rigidity or muscle
contracture (dystonia) Slow or abnormal eye movements.
MYOTONIC DYSTROPHY
SYNDROME
 MYOTONIC DYSTROPHY
SYNDROME
- Characterized by weakness of muscle and myotonia ( relaxation of
muscles after contraction)
- Can affect other organs such as eyes, heart and brain
- There is currently no cure or specific treatment for myotonic
dystrophy.
- Ankle supports and leg braces can help when muscle weakness gets
worse. There are also medications that can lessen the myotonia.
- Other symptoms of myotonic dystrophy such as the heart problems,
and eye problems (cataracts) can also be treated.
 Autosomal Recessive
This pedigree is of an autosomal
recessive trait or disorder. The
completely red square represents a
male that is homozygous recessive and
has the trait. All of the half-shaded
individuals are carriers; they do not
exhibit the trait because it is recessive,
but they could pass it on to their
offspring if their partner is also a
heterozygote. Autosomal recessive
disorders include cystic fibrosis and Tay-
Sachs disease.
CYSTIC FIBROSIS
SYNDROME
 CYSTIC FIBROSIS SYNDROME
• Cystic fibrosis is an inherited disorder that causes severe damage to
the lungs, digestive system and other organs in the body.
• affects the cells that produce mucus, sweat and digestive juices
• Salty sweat; many parents notice a salty taste when kissing their child.
• Poor growth and weight gain (failure to thrive)
• Constant coughing and wheezing.
• Thick mucus or phlegm.
• Greasy, smelly stools that are bulky and pale colored.
TAY-SACHS
SYNDROME
 TAY-SACHS SYNDROME
• Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring
in children, that results in progressive destruction of the nervous system.
• caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).
Without this protein, chemicals called gangliosides build up in nerve cells in
the brain, destroying brain cells - a fatty substance, or lipid, called GM2
ganglioside accumulates abnormally in cells, especially in the nerve cells of
the brain. This ongoing accumulation causes progressive damage to the cells.
• Children with Tay-Sachs rarely live beyond 4 years of age. In late-onset Tay-
Sachs (LOTS), early symptoms such as clumsiness or mood changes may be
minor or seem "normal" and go unnoticed.
• child begins to suffer seizures, blindness, and degeneration of motor and
mental performance and dies within a few years.
 Sex-Linked
This pedigree depicts a sex-linked disorder
on the X chromosome. Some sex-linked
disorders are dominant, and some are
recessive; the pedigree on the right is of a
sex-linked recessive disorder. In this
pedigree, only males have the disorder,
but some of the females are heterozygotic
carriers who can pass down the trait even
though they do not show it themselves.
Colorblindness, hemophilia, and Duchenne
muscular dystrophy are all sex-linked
disorders.
 COLOR BLINDNESS TEST CHART

Those that could see the figure are normal; those that cannot are colorblind.
BALDNESS
DUCHENNE
MUSCULAR
DYSTROPHY
(DMD)
HYPOPHOSPHATEMIA
(XLH),
 Y-Linked
Inheritance of genes on the Y
chromosome. Since only males
normally have a Y chromosome, Y-
linked genes can only be transmitted
from father to son. Y-linked
inheritance is also called holandric
inheritance.
HYPERTRICHOSIS
PINNAE