Imprinting

Question 1

What are imprinted genes?

Answer 1

One copy of the gene (either maternal or paternal) is turned off – often methylation

Question 2

Is imprinting heritable?

Answer 2

No, imprints are erased before gametogenesis

Question 3

Are imprinted areas conserved?

Answer 3

Yes, imprinted areas are the same from person to person.

Question 4

What are symptoms of Prader-Willi syndrome?

Answer 4

Central obesity

Insatiable hunger

Question 5

What mutation causes Prader Willi?

Answer 5

Paternal deletion 15q11-13

Question 6

How does uniparental disomy occur?

Answer 6

Nondisjunction in one parent causes them to pass on 2 copies of a chromosome

Question 7

How do cells handle uniparental disomy?

Answer 7

Cells kick out an extra chromosome. Sometimes it will accidentally kick out the chromosome from the single-donating parent and thus end up with 2 chromosomes from the same parent

Question 8

What is a secondary (non deletion) way that Prader Willis can develop?

Answer 8

Maternal uniparental disomy

Question 9

What is nondisjunction (and thus uniparental disomy) often associated with?

Answer 9

Advanced maternal age

Question 10

What is Angelman syndrome?

Answer 10

Maternal deletion of 15q 11-13

Question 11

What are symptoms of Angelman syndrome?

Answer 11

Gait and neurologic problems