Human Genetic

Disorders
Chapter 11
CP Biology
 Genetic Disorders
• Major types of genetic disorders:
• Autosomal
• Single genes
• Multiple genes
• Sex-linked
• Chromosome abnormalities
 Autosomal Disorders
• Autosomal genetic disorders are caused by alleles on autosomes
(chromosomes other than the sex chromosomes)

• Most are recessive (need 2 recessive alleles to have the disorder)

• People with 1 recessive allele are carriers – they do NOT have the
disorder but are able to pass the allele on to their children
• Ex: Cystic fibrosis (CF), sickle cell anemia

• Can also be dominant (need only 1 allele to have the disorder)

• Ex: Huntington’s disease
 Cystic Fibrosis (CF)
• Cystic fibrosis is the
most common genetic
disorder among white
people

• 1 in 2500 white babies

are born with CF (4-5
born every day)

• It is estimated that 1 in
20 white people is a
carrier for CF
Cystic Fibrosis (CF)

• Caused by an abnormal
gene on chromosome 7

• The gene is for a protein

pump that uses active
transport to regulate the
movement of sodium (Na+)
and chloride ions (Cl-) into
and out of cells
Cystic Fibrosis (CF)
• In healthy individuals,
the normal protein
allows movement of Na+
and Cl- ions
• Keeps mucus thin and
easily swept away

• With CF, not enough Cl-

ions are pumped out
• Thickening of mucus in
airways and pancreatic
ducts
Symptoms of CF
• Buildup of mucus in the
lungs/ respiratory system
• Difficulty breathing
• Infections

• Blocks digestive enzymes

(produced by the pancreas)
from entering the intestine
• Malnutrition

• Abnormal Na+ transport

also results in salty sweat
 Treatments for CF
• For respiratory symptoms:
• Physical therapy
• Breathing exercises
• Antibiotics
• Lung transplants in severe cases

• For digestive symptoms:

• Capsules containing pancreatic digestive enzymes

• Even with treatment, CF continues to be fatal, but patients

live longer and have a higher quality of life
 Sickle-Cell Anemia
(Sickle-Cell Disease)
• The most common
genetic disorder among
black people

• About 1 in 500 African

Americans has sickle-cell
anemia.

• Carriers are said to have

sickle-cell trait
 Sickle-Cell Anemia
• Caused by an abnormal gene
on chromosome 11

• The gene is for one of the

polypeptide chains in
hemoglobin, a protein found
in red blood cells that is
responsible for transporting
oxygen through the
bloodstream
 Sickle-Cell Anemia
• Sickle-cell anemia causes hemoglobin to clump within red
blood cells, which distorts their shape from the normal
biconcave disc to a sickle shape.
• People with sickle-cell trait have
some abnormal hemoglobin but do
not have the symptoms of sickle-
cell disease.
 Symptoms of Sickle-Cell Anemia

• Abnormal hemoglobin cannot

deliver oxygen as efficiently to
cells as in healthy individuals
• Fatigue
• Dizziness
• Headaches

• Sickled red blood cells cannot move as easily through capillaries

as normal RBCs
• Chronic pain, especially in bones
• Reduced immune response to infections
• Strokes
Treatments for Sickle-Cell Anemia
• Treatments for sickle-cell anemia include:
• Blood transfusions
• Antibiotics
• Drugs that increase oxygen-carrying capacity of RBCs
• Drugs that “switch on” the gene for fetal hemoglobin, which is
normally switched off after birth

• Living with sickle-cell anemia

 Huntington’s Disease
• Caused by an abnormal dominant allele (unlike most human
genetic disorders)

• Both men and women need only one Huntington’s allele to

get the disorder.
Symptoms of Huntington’s Disease
• Huntington’s disease affects a person’s brain cells
• Clumsiness
• Irritability
• Depression
• Memory loss
• Loss of muscle coordination & ability to
speak

• Symptoms normally appear by age 40

• Huntington’s disease is always fatal
• Death normally occurs within 20 years of
the onset of symptoms
Living with Huntington’s
 Multiple Genes
• Cystic fibrosis, sickle-cell disease, and Huntington’s disease
are all caused by mutant alleles for a single gene.

• Many other genetic disorders are believed to be the result of

multiple genes:
• Diabetes mellitus
• Heart disease
• Some personality disorders
• Bipolar disorder, schizophrenia

• These are much more complicated to analyze than disorders

caused by single genes
 Sex-Linked Disorders
• Sex-linked disorders
are almost always
caused by mutant
alleles on the X
chromosome
• Hemophilia
• Red-green
colorblindness

• Women can be
carriers, but men
cannot
 Hemophilia
• Hemophilia is caused by an abnormal
gene for a blood clotting factor

• Blood does not clot normally, so even

a tiny cut can result in excessive
bleeding

• Internal bleeding is a major concern

• Most common around joints

• Hemophiliacs bruise very easily

 Red-Green Colorblindness
• Red-green colorblindness
is caused by an abnormal
gene for photoreceptors in
the retina

• The genes for both red and

green photoreceptors are
located on the X
chromosome –
colorblindness can result
from recessive alleles for
either one or both of these
genes
 Red-Green Colorblindness
• People with
deuteranomaly and
protanomaly are
collectively known as red-
green colour blind and
they generally have
difficulty distinguishing
between reds, greens,
browns and oranges. They
also commonly confuse
different types of blue and
purple hues.
 Chromosome Abnormalities
• Autosomal and sex-linked
genetic disorders are both
caused by certain alleles –
small segments of DNA that
make up part of a
chromosome

• Other genetic disorders result

from chromosome
abnormalities caused by
mistakes made during meiosis.
• May change the number or
structure of chromosomes
within gametes
 Nondisjunction
• Nondisjunction is the failure
of a pair of chromosomes to
separate during meiosis
• Results in one gamete
having too many
chromosomes and the
other too few
• Trisomy – a zygote gets 3
copies of a chromosome
• Monosomy – a zygote gets
only 1 copy of a
chromosome
 Trisomy 21
• Down syndrome (DS or
DNS), also known as
trisomy 21, is a genetic
disorder caused by the
presence of all or part of a
third copy of chromosome
21. It is typically associated
with physical growth delays,
characteristic facial features,
and mild to moderate
intellectual disability.
 Trisomy 18
• Trisomy 18, also known as Edward’s
syndrome, is a condition which is caused
by a error in cell division, known as
meiotic disjunction. When this happens,
instead of the normal pair, an extra
chromosome 18 results (a triple) in the
developing baby and disrupts the normal
pattern of development in significant ways
that can be life-threatening, even before
birth. A Trisomy 18 error occurs in about
1 out of every 2500 pregnancies in the
United States and 1 in 6000 live births.
The numbers of total births is much
higher because it includes significant
numbers of stillbirths that occur in the
2nd and 3rd trimesters of pregnancy.
 Trisomy 18
• Unlike Down syndrome, which
also is caused by an extra
chromosome, the developmental
issues caused by Trisomy 18 are
associated with more medical
complications that are more
potentially life-threatening in the
early months and years of life.
Studies have shown that only
50% of babies who are carried to
term will be born alive, and baby
girls will have higher rates of live
birth than baby boys.
 Trisomy 13
• Patau syndrome is a
syndrome caused by a
chromosomal abnormality,
in which some or all of the
cells of the body contain
extra genetic material from
chromosome 13. The extra
genetic material disrupts
normal development,
causing multiple and
complex organ defects.
 Trisomy 13
• Trisomy 13 is a rare condition
caused by an extra copy of
chromosome 13.

• Babies with trisomy 13 have many

abnormalities, involving nearly
every organ system in the body, as
well as developmental delay.

• It is difficult to predict the life

expectancy of a baby with trisomy
13.

• Parents of a baby with trisomy 13

are encouraged to seek genetic
counselling.
 Trisomy 22
• Trisomy 22 or Emmanuel
syndrome is a chromosomal
disorder in which there are three
copies of chromosome 22 rather
than two. It is a frequent cause of
spontaneous abortion during the
first trimester of pregnancy.
Progression to the second
trimester and live birth are rare.
This disorder is found in
individuals with an extra copy or
a variation of chromosome 22 in
some or all cells of their body.
 XXY Syndrome
• Klinefelter syndrome is a
chromosomal condition
in boys and men that can
affect physical and
intellectual development.
Its signs and symptoms
vary among affected
individuals.
 XXY Syndrome
• Boys and men with Klinefelter
syndrome typically have small
testes that produce a reduced
amount of testosterone.
Testosterone is the hormone that
directs male sexual development
before birth and during puberty.
Without treatment, the shortage
of testosterone can lead to
delayed or incomplete puberty,
breast enlargement
(gynecomastia), and a reduced
amount of facial and body hair.
 Triple X Syndrome
• Triple X syndrome, also called
trisomy X or 47,XXX, is
characterized by the presence of an
additional X chromosome in each
of a female's cells. Although
females with this condition may be
taller than average, this
chromosomal change typically
causes no unusual physical
features. Most females with triple X
syndrome have normal sexual
development and are able to
conceive children.
 Triple X Syndrome
• Triple X syndrome is associated
with an increased risk of learning
disabilities and delayed
development of speech and
language skills. Delayed
development of motor skills (such
as sitting and walking), weak
muscle tone (hypotonia), and
behavioral and emotional
difficulties are also possible, but
these characteristics vary widely
among affected girls and women.
Seizures or kidney abnormalities
occur in about 10 percent of
affected females.
 XYY Syndrome
• Most people have 46
chromosomes in each cell. In
males, this typically includes one
X chromosome and one Y
chromosome (XY). XYY
syndrome is a genetic condition
that occurs when a male has an
extra copy of the Y chromosome
in each of their cells (XYY).
Sometimes, this mutation is only
present in some cells. Males with
XYY syndrome have 47
chromosomes because of the
extra Y chromosome.
 XYY Syndrome
• This condition is also
sometimes called Jacob’s
syndrome, XYY
karyotype, or YY
syndrome. According to
the National Institutes of
Health, XYY syndrome
occurs in 1 out of every
1,000 boys.
 XYY Syndrome
• For the most part, people with
XYY syndrome live typical
lives. Some may be taller than
average and face learning
difficulties or speech problems.
They may also grow up with
minor physical differences, such
as weaker muscle tone. Besides
these complications, though,
males with XYY syndrome
don’t usually have any
distinguishing physical features,
and they have normal sexual
development.
 Monosomy X
• Turner syndrome is a
genetic condition caused
by an abnormality on one
of your sex chromosomes.
It’s also called monosomy
X, gonadal dysgenesis, and
Bonnevie-Ullrich
syndrome. Only the female
sex develops this condition.
 Monosomy X
• Turner syndrome occurs when
part or all of one of your X
chromosomes is missing. This
condition affects
approximately 1 in 2,000
females.

• People with Turner syndrome

can lead healthy lives. But they
typically require some
consistent, ongoing medical
supervision to detect and treat
complications.
 Cri du chat
• Cri du chat syndrome, also known as
5p- (5p minus) syndrome or cat cry
syndrome, is a genetic condition that is
caused by the deletion of genetic
material on the small arm (the p arm)
of chromosome 5. Infants with this
condition often have a high-pitched cry
that sounds like that of a cat. The
disorder is characterized by intellectual
disability and delayed development,
small head size, low birth weight, weak
muscle tone in infancy, and distinctive
facial features. While cri du chat
syndrome is a genetic condition, most
cases are not inherited.
 Translocation

• Translocation is when a
piece of one chromosome
breaks off and attaches to
a different chromosome
• Often happens to 2
chromosomes at once
 Congenital Disabilities
• Congenital disabilities are different from genetic disorders
• Not inherited
• Occur during fetal development

• Both genetic disorders and congenital disabilities can often (but

not always) be detected before a baby is born
 Genetic Counseling
• Genetic counseling can help parents determine the likelihood
of their child being born with a genetic disorder
• Genetic counselors study the family histories of both parents
• Create pedigree charts to trace the passage of traits
• Medical geneticists analyze blood tests to determine if parents are
carriers of certain genetic disorders

• Genetic counseling usually can NOT determine whether or

not a child will be born with a genetic disorder
 Diagnosing Genetic Disorders
• There are several ways to determine whether a child will have
a genetic disorder

• Two main ways to diagnose:

• Analysis of fetal cells
• Amniocentesis
• Chorionic villus biopsy
• Imaging techniques
• Ultrasonography (computerized image)
• Fetoscopy (direct observation)
 Amniocentesis
• Amniocentesis
• Amniotic fluid is the fluid that
surrounds a fetus inside the uterus
• Also contains fetal cells
• A sample of amniotic fluid is taken
and cells are grown in a lab
• Can be used to make a karyotype –
takes 10 days to grow enough cells
• Detects chromosome abnormalities
• Can be analyzed for defective alleles
• Detects other genetic disorders
• Cannot be conducted until the 14th
week of pregnancy
Amniocentesis
 Chorionic Villus Biopsy
• Chorionic villus biopsy
• Chorionic villi are structures
that help maximize the surface
area for nutrient and gas
exchange between a mother
and developing fetus (they are
part of the placenta)
• The villi develop from fetal
cells and therefore have the
same chromosomes as the
fetus & amniotic fluid
• A sample of these cells can be
taken and analyzed as in
amniocentesis • Can be done as early as the 9th
• Karyotyping week of pregnancy
• Tests for recessive alleles
 Ultrasonography
• Uses high-frequency sound waves which
bounce off of tissue
• Depending on the density of tissue,
waves “echo” back at different
wavelengths and are used to produce a
computerized image called an echogram
• Used in most pregnancies to detect the
position and anatomy of the fetus
• Used with amniocentesis to reduce risk
of injury
• Can also help doctors detect
abnormalities such as congenital heart
defects
 Fetoscopy
• A small incision is made in a
pregnant woman’s abdomen

• An endoscope tube is inserted

through the incision
• Has a camera on the end that
shows an image on a monitor
• Instruments can be inserted
through the endoscope to
perform additional procedures
 Developing Cures for Genetic
Disorders
• Gene therapy
• Introducing normal genes into the
cells of people with defective alleles
• Using viruses to inject alleles into
cells
• Enclosing alleles in droplets of fat,
which are taken into cells by
endocytosis
• Currently these are still
experimental procedures and have
had limited success