Genetic Mechanisms

Question 1

Di George is an example of

Answer 1

Microdeletion TBX1 leads to heart defects

Question 2

Cri du chat syndrome is an example of

Answer 2

Idiopathic chromosomal abnormality. Hyertelorism, epincanthus, tetrognathia

Question 3

Microdeletions at ____ are found in a significant number of men with low sperm count

Answer 3

TQ

Question 4

What is the azf region

Answer 4

Azoospermia factor, necessary for the production of sperm

Question 5

FMR1 gene mutation results in

Answer 5

Fragile X syndrome

Question 6

What enzyme is responsible for methylation

Answer 6

DNMT

Question 7

Methylation favors the incorporation of DNA into

Answer 7

Heterochromatin

Question 8

What do HATs do

Answer 8

Transfer Acetyl group to a lysine residue to negate its charge and make it easier for DNA to unwind

Question 9

Is an imprinted section more or less likely to be expressed and why

Answer 9

Genes are more likely to be encoded because the non coding segment is inactivated, allowing the polymerase to work

Question 10

Are genes expresses if ICE is deleted

Answer 10

Yes