MUTATIONS

AND
GENETIC
DISORDERS
MUTATION
MUTATIONS
CHROMOSOMAL
MUTATION
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.
NON DISJUCTION
Monosomy:
gamete has 1 less chromosome
than it should
45 chromosomes
is the result
Trisomy:

Gamete has 1 more chromosome

than it should
Result is 47 chromosomes
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
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
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

1 in 1000 male live births

Mild learning difficulties
Taller than average with long lower
limbs
Show mild enlargement of breasts
TURNER’S SYNDROME

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
 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”
HEMOPHILIA

Sex-linked
Failure of blood to clot
Rare in females
SICKLE CELL ANEMIA

Mutation in blood protein

“sickle” shape to RBC
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)