Organ Pathology - Handout 1 - Genetics And Teratogens

1. In which scenario is a teratogenic effect going to be most dramatic?

During migration

During cell death

During rapid cell differentiation

After birth

During rapid cell differentiation, the teratogenic effect is going to be most dramatic. This is because during this stage, cells are rapidly dividing and transforming into different specialized cell types. Any disruption or interference caused by teratogens can have a profound impact on the development and organization of these cells, leading to severe abnormalities or malformations in the developing organism.

Explanation

During rapid cell differentiation, the teratogenic effect is going to be most dramatic. This is because during this stage, cells are rapidly dividing and transforming into different specialized cell types. Any disruption or interference caused by teratogens can have a profound impact on the development and organization of these cells, leading to severe abnormalities or malformations in the developing organism.

2. Which of the following diseases has an autosomal dominant inheritance pattern?

Cystic Fibrosis

PKU

Huntington's Disease

Sickle Cell Anemia

The others are autosomal recessive.

Explanation

The others are autosomal recessive.

3. Which of the following are true regarding smoking during pregnancy? (Select 2)

Smoking causes constriction of blood vessels and reduced blood flow (and nutrients) to the uterus

Smoking causes vasodilation and nutrient transfer to the fetus is normal, however oxygen is low

Smoking raises the concentration of carbon monoxide in mother and fetus bloodstream

Nicotine does not cross the placental barrier

Nicotine does cross the placental barrier since the concentration in the fetus' blood is elevated.

Explanation

Nicotine does cross the placental barrier since the concentration in the fetus' blood is elevated.

Submit

4. Your friend smells like your lab mice and he tells you he can't eat beans, meat, and most dairy. You conclude he has

Albinism

A disease with the inability to digest phenylalanine

Too much phenylalanine hydroxylase

A disease originating on chromosome 7

He has PKU. Which is a deficiency of phenylalanine hydroxylase originating on chromosome 12

Explanation

He has PKU. Which is a deficiency of phenylalanine hydroxylase originating on chromosome 12

5. Translation occurs when DNA becomes mRNA, transcription occurs when mRNA becomes a protein

True

False

Opposite

Explanation

Opposite

6. G6P Dehydrogenase deficiency is a disease with a(n) ____________ inheritance pattern

X-Linked Dominant

Y-Linked

Chromosome 12 Recessive

X-Linked Recessive

She emphasized this in class so might be good to know it. Color blindness is also X-Linked Recessive

Explanation

She emphasized this in class so might be good to know it. Color blindness is also X-Linked Recessive

7. Which of the following is true regarding albinism?

Its disease originates on chromosome 15

It is caused by a deficiency of N-acetyalhexoaminidase

The patient is unable to convert tyrosine to DOPA

An albino must have a low protein diet to prevent mental retardation

Albinism is a genetic disorder that affects the production of melanin, the pigment responsible for the color of the skin, hair, and eyes. The patient with albinism lacks the enzyme called tyrosinase, which is responsible for converting tyrosine to DOPA, an important step in the production of melanin. This results in a reduced or complete absence of melanin in the body, leading to the characteristic features of albinism such as pale skin, white hair, and light-colored eyes.

Explanation

Albinism is a genetic disorder that affects the production of melanin, the pigment responsible for the color of the skin, hair, and eyes. The patient with albinism lacks the enzyme called tyrosinase, which is responsible for converting tyrosine to DOPA, an important step in the production of melanin. This results in a reduced or complete absence of melanin in the body, leading to the characteristic features of albinism such as pale skin, white hair, and light-colored eyes.

8. Which of the following are true regarding Down Syndrome (select 2)

It is a trisomy of the 21st chromosome

It is a trisomy of the 18th chromosome

A hallmark symptom is a big, wrinkled tongue

An exclusive trait is mental retardation

A Down syndrome patient only has 1 X chromosome

Mental retardation is a trait but it is not exclusive to Down syndrome.

Explanation

Mental retardation is a trait but it is not exclusive to Down syndrome.

Submit

9. Which of the following is true regarding fetal alcohol syndrome (Select 2)

Alcohol is absorbed by the baby's bloodstream and impairs development by switching DNA base pairs

The high metabolic demand of alcohol decreases the oxygen available to the fetus

It requires large doses of alcohol to occur

A distinguishing feature is a newborn with an indistinct philtrum

Fetal alcohol syndrome is a condition that occurs when a pregnant woman consumes alcohol, which can lead to various developmental issues in the fetus. One true statement regarding fetal alcohol syndrome is that the high metabolic demand of alcohol decreases the oxygen available to the fetus. Alcohol metabolism requires oxygen, and when alcohol is present in the bloodstream, it competes with the fetus for oxygen, leading to reduced oxygen supply to the developing baby. Another true statement is that a distinguishing feature of fetal alcohol syndrome is a newborn with an indistinct philtrum, which is the vertical groove between the nose and upper lip.

Explanation

Fetal alcohol syndrome is a condition that occurs when a pregnant woman consumes alcohol, which can lead to various developmental issues in the fetus. One true statement regarding fetal alcohol syndrome is that the high metabolic demand of alcohol decreases the oxygen available to the fetus. Alcohol metabolism requires oxygen, and when alcohol is present in the bloodstream, it competes with the fetus for oxygen, leading to reduced oxygen supply to the developing baby. Another true statement is that a distinguishing feature of fetal alcohol syndrome is a newborn with an indistinct philtrum, which is the vertical groove between the nose and upper lip.

Submit

10. Your female patient has Leber's disease. Which of the following family members would also have the disease? (Select 3)

The patients mother

The patient's father

The patient's grandfather

The patient's daughter

The patient's brother

Leber's is a maternal inheritance disease. So she will have gotten it from her mother along with the rest of her siblings, and all of her children will have it too.

Explanation

Leber's is a maternal inheritance disease. So she will have gotten it from her mother along with the rest of her siblings, and all of her children will have it too.

Submit

11. Match the following disease with its chromosomal origin.

Cystic Fibrosis

Tay Sachs

PKU

Submit