X-linked and mitochondrial inheritance

Question 1

In an x-linked pedigree, there is no ___________

Answer 1

male-to-male transmission

Question 2

______ of female carrier of Hemophilia A are affected.

Answer 2

10%

Question 3

Duchenne Muscular Dystrophy is caused by a mutation on the _______ gene, affected the protein ________ on chromosome X.

Answer 3

DMD, Dystrophin

Question 4

_________ is the largest human gene

Answer 4

DMD

Question 5

Duchenne Muscular Dystrophy can be evaluated using the ____________

Answer 5

Gower Maneuver

Question 6

Fragile X syndrome is passed from _______ to _______

Answer 6

Mother to sons

Question 7

What are some of the clinical manifestations of fragile X syndrome?

Answer 7

1. Intellectual disabilities 2. Dysmorphic features: large ears, long face 3. Autistic behavior 4. Social anxiety 5. Hand flapping/biting 6. Aggression

Question 8

Mitochondrial DNA is inherited from ________

Answer 8

mom

Question 9

What are mitochrondrial disease?

Answer 9

They are a group of disorders caused by dysfunction of the reparatory chain. It affect tissues that heavily rely on oxidative phosphorylation - brain retina, skeletal muscle and heart

Question 10

Fragile X syndrome has _______ repeats

Answer 10

CGG

Question 11

Huntington’s disease has ________ repeats

Answer 11

CAG