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Genetic Disorders Review
What is the disorder?
• Chromosome 11
• Inability to manufacture melanin
• Often shifting back and forth of eyes
• ANSWER: ALBINISM
What is the disorder?
• Polygenic
• More common among Asians
• Opening in lip and roof of mouth
• ANSWER: cleft lip/cleft palate
What is the disorder?
• Sex-linked trait
• Lack AHF factor
• “bleeder’s disease:
• ANSWER: hemophilia
What is the disorder?
• Chromosome #4
• Too many copies of CAG – causes atrophy
of the brain
• Does not manifest itself until 20’s-30’s
• ANSWER: Huntington’s
What is the disorder?
• On X-chromosome
• Weakening of muscles
• Calf muscles enlarge first, usually in young
boys
• ANSWER: Duchenne Muscular Dystrophy
What is the disorder?
• Chromosome #15
• Accumulation of fat on the brain leads to
degeneration of the nervous system
• Highest in Eastern European Jews
• ANSWER: Tay Sachs
What is the disorder?
• Nondisjunction
• XXY
• Sterile, small testes, breast enlargement in
males
• ANSWER: Klinefelters
What is the disorder?
• Nondisjunction
• Trisomy 21
• Mental retardation, round face, extra fold
on eyes, sluggish muscles
• ANSWER: Down Syndrome
What is the disorder?
• Chromosome #12
• Breakdown of products of phenylalanine
• Mental retardation if diet does not omit
phenylalanine
• ANSWER: PKU
What is the disorder?
• Red blood cells collapse
• Carriers are somewhat resistant to malaria
• Found mostly in African-Americans and
people of Mediterranean
• ANSWER: sickle-cell anemia
What is the disorder?
• Nondisjunction
• Female XO, sterile
• Web between neck and shoulders
• ANSWER: Turner Syndrome
What is the disorder?
• Sex-linked trait
• XcY would be affected male
• Inability to detect certain colors
• ANSWER: color blindness
What is the disorder?
• Dominant chromosome #4
• Short stature, trident hand, prominent
forehead
• Dwarfism Aa
• ANSWER: Achrondroplasia
What is the disorder?
• Dementia
• Memory loss, confused
• Plaque on the brain
• ANSWER: Alzheimers
What is the disorder?
• Long limbs, enlarged aorta
• Spidery fingers
• Abe Lincoln had it
• ANSWER: Marfans
What is the disorder?
• Polygenic trait
• Shunt in brain to drain off fluid
• Opening of the vertebral column
• ANSWER: Spina bifida
What is the disorder?
• Chromosome #7-salty skin in symptom
• Lack enzyme to break down mucous in
respiratory and digestive tract
• Treatment with pounding chest
• ANSWER: Cystic Fibrosis
What is this diagram called?
A.Pedigree
B.Punnett
square
C.Kayrotype
What is this diagram called?
A.Punnett
square
B.Pedigree
C.Kayrotype
ANSWER: C
What is this diagram called?
A. Punnett
square
B. Pedigree
C. Karyotype
What is this diagram called?
A. Punnett
square
B. Pedigree
C. Karyotype
ANSWER: B
What disorder is this?
A. TURNERS
B. KLINEFELTERS
C. DOWNS
D. METAFEMALE
What disorder is this?
A. TURNERS
B. KLINEFELTERS
C. DOWNS
D. METAFEMALE
ANSWER: XXY
Klinefelters
What disorder is this?
A. TURNERS
B. KLINEFELTERS
C. METAFEMALE
D. DOWNS
What disorder is this?
A. TURNERS
B. KLINEFELTERS
C. METAFEMALE
D. DOWNS
ANSWER: D
What are the chances of…
• two Achrondroplasia parents having a
normal sized child?
• HINT: AA = dead
•
Aa = achondroplasia
•
aa = normal
• ANSWER: 25%
What are the chances…
• Of a father with hemophilia and a wife of
no hemophilia gene having a child with
hemophilia? Could any children be
carriers?
• ANSWER: 0% children; girls are
carriers
What disorder is this?
A. TURNERS
B. KLINEFELTERS
C. METAFEMALE
D. DOWNS
ANSWER: A
Which disorders ARE NOT caused
by nondisjunction?
•
•
•
•
•
Klinefelters
Turners
Cystic Fibrosis
Trisomy 21
Hemophilia
• ANSWERS:
• Cystic Fibrosis
• Hemophilia
What is the genotypic ratio of the
offspring of parents AO and BO?
A
B
O
O
What is the genotypic ratio of the
offspring of parents AO and BO?
A
O
B
AB
BO
O
AO
OO
What is the phenotypic ratio?
What is the genotypic ratio of the
offspring of parents AO and BO?
A
O
B
AB
BO
O
AO
OO
What is the phenotypic ratio?
25% each blood types A, B, AB, O
What type of blood can each of
these blood types RECEIVE?
•
•
•
•
•
A+
O+
OAB+
B-
•
•
•
•
•
O+, A+
Only O+
Only OAll +
O-, B-
In which phase of mitosis
• Are the chromosomes stopped to make a
karyotype?
• A. prophase
• B. telophase
• C. metaphase
• D. anaphase
• ANSWER: METAPHASE
How are the chromosomes
arranged
•
•
•
•
•
In a karyotype?
A. smallest to largest
B. largest to smallest
C. by color
D. by shape
• ANSWER: B
Who is the oldest child in
generation III?
Who is the oldest child in
generation III?
• #1
If red hair is recessive and is
shaded in, how many boys and
how many girls have red hair?
If red hair is recessive and is
shaded in, how many boys and
how many girls have red hair?
• 2 boys + 2 girls
Is this person a male or female?
Is this person a male or female?
• MALE
Is this person male or female?
Is this person male or female?
• MALE
• Normal
Or what
Disorder?
Is this person male or female?
• MALE
• Klinefelters
Is this a male or female?
Is this a male or female?
• Female- Normal or a disorder?
Is this a male or female?
• Female- TURNERS SYNDROME
This is a sex-linked trait. Why is
there no trait (shaded) in
Generation II, but can be in III?
Just carriers in Generation II.
Which is NOT a sex-linked trait?
•
•
•
•
Klinefelters
Color-Blindness
Hemophilia
Duchenne Muscular
Dystrophy
• ANSWER:
Klinefelters
Which is NOT genetic disorder?
•
•
•
•
Color Blindness
AIDS
Marfans
Tay Sachs
• ANSWER:
• AIDS
Make a Punnett Square for
two parents AS for sickle-cell
anemia.
Make a Punnett Square for
two parents AS for sickle-cell
anemia.
A
A
S
S
Make a Punnett Square for
two parents AS for sickle-cell
anemia.
A
A
S
AA
(normal
RBC)
AS
(resistant to
malaria)
S
AS
(resistant to
malaria)
SS
(sickle-cell
disease)