Mutations &

Genetic Disorders
IN 141
Headings
Vocabulary
Important Information
 Mutations
Mutation:
 Any mistake or change in the DNA sequence

Point mutation:
 Change in
one nitrogen
base in DNA
 Ex: albinism
 Chromosomal Mutation:
 Changes in
chromosome
structure
1) INVERSION:
 the order of genes on
a chromosome is
inverted
2) TRANSLOCATION:
•the movement of a
chromosome fragment to
a nonhomologus
chromosome
3. DELETION
 Loss of a few bases
 Loss of large regions
of a chromosome

4. DUPLICATION
 Duplication of a few
bases
 Duplication of large
regions of a
chromosome
 Crossing Over
 Occurs when
chromosomes
exchange genes.
 2 chromosomes
overlap.
 Some genes
cross over and
switch places
 NONDISJUNCTION
Nondisjunction:
 chromosome pair fails
to separate properly
during meiosis
Monosomy:
 gamete has 1 less
chromosome than it
should
 45 chromosomes
is the result
 Ex: Turner syndrome
 Missing a sex
chromosome
 Trisomy:
Gamete has 1
more chromosome
than it should
Result is 47
chromosomes
Ex: Down’s
Syndrome
Extra#21
chromosome
 Methods of Detection
Chorion villi sampling:
•Take sample of the chorion
–(membrane surrounding
fetus)
•Chemical tests and Karyotyping performed

Ultrasound:
 Sound waves are used to
generate an image of the
unborn child.
 Used to detect abnormalities of
limbs, organs, etc.
Amniocentesis:
• Fluid surrounding the fetus is drawn out by
needle
• Fetal cells are collected and grown in a lab.
• Chromosomes can be then Karyotyped
Autosomal Disorders
 Down’s Syndrome (Trisomy 21)

 Patau’s Syndrome (Trisomy 13)

 Edward’s Syndrome (Trisomy 18)

 Down’s Syndrome (DS)
 Excess # 21 chromosome
 Prenatal testing can be done
 Result of chromosomal mutation
 1 in 900 people born with this
 Likelihood of having a child with DS
increases with advancing maternal age
 Symptoms: mental retardation, upward
slant to eyes, small mouth, abnormal ear
shape, decreased muscle tone
 No cure
 Patau’s Syndrome &
Edward’s Syndrome
 Cardiac abnormalities
 Very severe conditions
 Most affected infants
die during first few
weeks of life
 Deletion Disorders
 Angelman Syndrome

 Prader-Willi Syndrome
 Angelman Syndrome
 Inappropriate
laughter with
convulsions
 Poor
coordination
 Mental
retardation
 Prader-Willi Syndrome

Extremely floppy
Obesity (constantly
hungry)
Mild mental
retardation
 Sex Chromosome Disorders
 Klinefelter’s Syndrome

 Turner’s Syndrome

 Fragile X Syndrome
 Klinefelter’s Syndrome
 47, XXY
 1 in 1000 male live births
 Mild learning difficulties
 Taller than average with
long lower limbs
 Show mild enlargement of
breasts
 Infertile (absence of
sperm)
 Treat with testosterone
Turner’s Syndrome

 45, X
 Low incidence
 Look normal
 Ovarian failure
 Normal intelligence
 Short stature
 Estrogen therapy
 Fragile X Syndrome
 Most common inherited
cause of mental
retardation
 1 in 2000 males
 High forehead,
prominent jaw, autism
 Gap in X chromosome
 Single Gene Disorders
 Cystic Fibrosis

 Hemophilia

 Sickle Cell Anemia

 Phenylketonuria
 Cystic Fibrosis (CF)
 Recessive disorder
 Mutation stops production of
protein in lung cells,
pancreas
 Thick mucus, bacterial
infections in lung
 “sweat test”
 Most common in
Caucasians (1 in 3300)
 Chest percussions, diet
supplements
 Shortened life expectancy
Hemophilia

 Sex-linked
 Failure of blood to clot
 Rare in females
 Injections with clotting factors to stop
bleeding episodes
 $350,000 a year in treatment
 Sickle Cell Anemia
 Mutation in blood protein
 “sickle” shape to RBC
 Screening tests
 Most common in African-Americans
(1 in 375)
 Pain associated with blocked vessels, causes
anemia (fatigue)
 Common where
mosquito-borne
malaria is present
 PKU
 Mutation disrupts function of enzyme
 Leads to high phenylalanine levels in brain
(poisons)
 Mental retardation, epilepsy
 Screening newborns (heel prick)
 1 in 10,000 Caucasian births
 Extremely rare in African-Americans
 Look normal
 Need low-protein diet,
smelly formulas
 Self Quiz:
Quick Check for Understanding
 1. Which of the following is an X-linked
disorder?
 A. Angelman B. hemophilia c. Down syndrome
 2. How is PKU tested for?
 A. amniocentesis b. heel prick c. X-ray
 3. How are CF patients treated?
 A. testosterone injections b. chest percussions
 4. Turner’s Syndrome is
 A. 45, X b. 46, XX c. 47, XXY
 5. Patients with Klinefelter’s Syndrome are
 A. all male b. all female c. male or female