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 O

B

O

What is the genotypic ratio of the offspring of parents AO and BO?

AB BO

AO OO

A O

B

O

What is the phenotypic ratio?

What is the genotypic ratio of the offspring of parents AO and BO?

AB BO

AO OO

A O

B

O

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+• O-• AB+• B-

• O+, A+• Only O+• Only O-• All +• 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 fortwo parents AS for sickle-cell

anemia.

Make a Punnett Square fortwo parents AS for sickle-cell

anemia.A S

A

S

Make a Punnett Square fortwo parents AS for sickle-cell

anemia.

AA

(normal RBC)

AS

(resistant to malaria)

AS

(resistant to malaria)

SS

(sickle-cell disease)

A S

A

S