Allosomal Disorders

Which of the following is a characteristic of X-linked dominant disorders?

• They show father to son transmission.

• They are more common in males than in females.

• Affected males are usually more severely affected than female heterozygotes.

• They result in a higher number of affected males in a family.

What is the consequence of hemizygosity in males for X-linked dominant disorders?

• Males can be carriers without showing symptoms.

• Males with the disorder often have less severe symptoms than females.

• There is no male-to-male transmission of the disorder.

• Hemizygous males are so severely affected that they do not survive.

Which of the following disorders is an example of an X-linked dominant disorder?

• Hemophilia

• Duchenne muscular dystrophy

• Rett syndrome

• Color blindness

How are X-linked dominant disorders inherited when the mother is affected?

• All children will inherit the disease.

• Only the sons will inherit the disease.

• Two children (one girl and one boy) will have the disease, and two (one girl and one boy) will not.

• Only the daughters will inherit the disease.

What is the pattern of inheritance in X-linked dominant disorders when the father is affected?

• All children will inherit the disease.

• Only the sons will inherit the disease.

• Two girls will have the disease, and two boys will not have the disease.

• The disease will not be passed on to any children.

What is Danon disease characterized by?

• Intracytoplasmic vacuoles containing autophagic material and glycogen

• Intracellular accumulation of lipids

• Extracellular deposition of amyloid proteins

• Overproduction of extracellular matrix components

Which gene is associated with mutations that cause Danon Disease?

• LAMP2 gene

• IKKB gene

• CFTR gene

• HBB gene

What is the function of the LAMP2 gene?

• It provides instructions for making a protein that regulates calcium channels.

• It provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2).

• It provides instructions for making a protein that regulates blood sugar levels.

• It provides instructions for making a protein that is involved in the replication of DNA.

Incontinentia pigmenti is presumed to be lethal to which group?

• Boys in utero

• Girls in utero

• Adult males

• Adult females

Which gene is mutated in Incontinentia pigmenti?

• LAMP2 gene

• IKKB gene

• CFTR gene

• HBB gene