Genetics

Question 1

Haploinsufficiency

Answer 1

Only one copy of working gene results in reduced protein function

Question 2

Dominant negative

Answer 2

Expression of abnormal protein interferes with normal protein

Question 3

Gain of function

Answer 3

Mutant protein gains a new function

Question 4

Where do mutations come from

Answer 4

occur during cell division
can come from parents
can occur randomly at gametogenesis
can occur if one parent is mosaic

Question 5

Dermatological genetic diseases

Answer 5

Neurofibromatosis
Tubular sclerosis
Epidermolysis bullosa
Eczema

Question 6

MCIR gene

Answer 6

Determines balance of melanin pigment in skin and hair
Converts phaeomelanin -> eumelanin
1 copy of the gene results in freckles
2 copies of the gene results in freckles + red hair