Question 1

Albinism:

1. Mode of inheritance?

Accepted Answer

Albinism is an autosomal recessive trait.

Question 2

Albinism:

2. Mistake?

Accepted Answer

The most common form of albinism is the lack of the enzyme tyrosinase, which produces the pigment melanin. A deficiency in this enzyme can be linked to a mutation in the gene TYR, which makes tyrosinase, and is located on chromosome 11.

Question 3

Albinism:

3. Population affected?

Accepted Answer

Albinism affects one in 38,000 whites and one in 22,000 blacks. Up to one in 70 human beings, however, are carriers of the albinism trait.

Question 4

Albinism: 

4. Physical attributes?

Accepted Answer

Albinos have little or no melanin, the pigment found in your skin, hair, and eyes, which makes them appear very white. Albinos also have poor vision and need sun protection.

Question 5

Albinism:

5. Treatment, lifespan, and quality of life?

Accepted Answer

There is no treatment for albinism, but glasses and the use of sunscreen can help aid symptoms. Albinos generally have a normal lifespan, and they commonly face discrimination for their disease, most notably in the countries of Tanzania and Burundi.

Question 6

Blue offspring (methemoglobinemia):

1. Mode of inheritance?

Accepted Answer

Blue offspring, or methemoglobinemia, is an autosomal recessive trait. It can also be acquired from the intake of nitrates.

Question 7

Blue offspring (methemoglobinemia):

2. Mistake?

Accepted Answer

"Blue offspring" results from the deficiency of the enzyme NADH-cytochrome b5 reductase. This enzyme, found on chromosome 22, converts methemoglobin, a form of hemoglobin that cannot carry oxygen, to hemoglobin. Without this enzyme one can't carry oxygen.

Question 8

Blue offspring (methemoglobinemia):

3. Population affected?

Accepted Answer

Infants under 6 months of age are more susceptible to acquiring methemoglobinemia from nitrates. Hereditary methemoglobinemia is rare, but is most common in certain Native American tribes (Navajo and Athabascan Alaskans).

Question 9

Blue offspring (methemoglobinemia):

4. Physical attributes?

Accepted Answer

Methemoglobinemia patients have blue-hued skin. Shortness of breath, headache, fatigue, dizziness, and loss of conciousness are symptoms of mild methemoglobinemia.

Question 10

Blue offspring (methemoglobinemia):

5. Treatment, lifespan, and quality of life?

Accepted Answer

Methemoglobinemia can be treated with supplemental oxygen and the chemical compound methylene blue. Acquired methemoglobinemia is usually not fatal when treated properly, but hereditary methemoglobinemia patients have a markedly shortented lifespan.

Question 11

Cystic fibrosis:

1. Mode of inheritance?

Accepted Answer

Cystic fibrosis is an autosomal recessive disease.

Question 12

Cystic fibrosis:

2. Mistake?

Accepted Answer

Cystic fibrosis is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator, or CFTR, on chromosome 7. The most common mutation (66 percent of CF cases) is a deletion of the amino acid phenylalanine in the protein.

Question 13

Cystic fibrosis:

3. Population affected?

Accepted Answer

One in 4,000 children in the U.S. is born with CF. One in 25 Caucasians and one in 29 Ashkenazi Jews are carriers of the cystic fibrosis mutation.

Question 14

Cystic fibrosis:

4. Physical attributes?

Accepted Answer

CF does not alter physical appearance. Coughing or wheezing, respiratory illnesses such as pneumonia or bronchitis, weight loss, and salty-tasting skin are the most common symptoms of CF.

Question 15

Cystic fibrosis:

5. Treatment, lifespan, quality of life?

Accepted Answer

There is no cure for CF, but most treatments, such as inhaled anitbiotics, involve clearing mucus from the lungs to improve quality of life. The life expectancy for an infant with CF is about 37 years old in the U.S., up from 32 in the year 2000.

Question	Answer
Albinism: 1. Mode of inheritance?	Albinism is an autosomal recessive trait.
Albinism: 2. Mistake?	The most common form of albinism is the lack of the enzyme tyrosinase, which produces the pigment melanin. A deficiency in this enzyme can be linked to a mutation in the gene TYR, which makes tyrosinase, and is located on chromosome 11.
Albinism: 3. Population affected?	Albinism affects one in 38,000 whites and one in 22,000 blacks. Up to one in 70 human beings, however, are carriers of the albinism trait.
Albinism: 4. Physical attributes?	Albinos have little or no melanin, the pigment found in your skin, hair, and eyes, which makes them appear very white. Albinos also have poor vision and need sun protection.
Albinism: 5. Treatment, lifespan, and quality of life?	There is no treatment for albinism, but glasses and the use of sunscreen can help aid symptoms. Albinos generally have a normal lifespan, and they commonly face discrimination for their disease, most notably in the countries of Tanzania and Burundi.
Blue offspring (methemoglobinemia): 1. Mode of inheritance?	Blue offspring, or methemoglobinemia, is an autosomal recessive trait. It can also be acquired from the intake of nitrates.
Blue offspring (methemoglobinemia): 2. Mistake?	"Blue offspring" results from the deficiency of the enzyme NADH-cytochrome b5 reductase. This enzyme, found on chromosome 22, converts methemoglobin, a form of hemoglobin that cannot carry oxygen, to hemoglobin. Without this enzyme one can't carry oxygen.
Blue offspring (methemoglobinemia): 3. Population affected?	Infants under 6 months of age are more susceptible to acquiring methemoglobinemia from nitrates. Hereditary methemoglobinemia is rare, but is most common in certain Native American tribes (Navajo and Athabascan Alaskans).
Blue offspring (methemoglobinemia): 4. Physical attributes?	Methemoglobinemia patients have blue-hued skin. Shortness of breath, headache, fatigue, dizziness, and loss of conciousness are symptoms of mild methemoglobinemia.
Blue offspring (methemoglobinemia): 5. Treatment, lifespan, and quality of life?	Methemoglobinemia can be treated with supplemental oxygen and the chemical compound methylene blue. Acquired methemoglobinemia is usually not fatal when treated properly, but hereditary methemoglobinemia patients have a markedly shortented lifespan.
Cystic fibrosis: 1. Mode of inheritance?	Cystic fibrosis is an autosomal recessive disease.
Cystic fibrosis: 2. Mistake?	Cystic fibrosis is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator, or CFTR, on chromosome 7. The most common mutation (66 percent of CF cases) is a deletion of the amino acid phenylalanine in the protein.
Cystic fibrosis: 3. Population affected?	One in 4,000 children in the U.S. is born with CF. One in 25 Caucasians and one in 29 Ashkenazi Jews are carriers of the cystic fibrosis mutation.
Cystic fibrosis: 4. Physical attributes?	CF does not alter physical appearance. Coughing or wheezing, respiratory illnesses such as pneumonia or bronchitis, weight loss, and salty-tasting skin are the most common symptoms of CF.
Cystic fibrosis: 5. Treatment, lifespan, quality of life?	There is no cure for CF, but most treatments, such as inhaled anitbiotics, involve clearing mucus from the lungs to improve quality of life. The life expectancy for an infant with CF is about 37 years old in the U.S., up from 32 in the year 2000.

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genetic disease