Lecture 15 - Autosomal Dominant and Recessive Disorders

Question 1

Rules that apply to AD condition?

Answer 1

affects both sex, transmitted from both sexes, affected parent, 1:1 offspring ratio, unaffected parents means unaffected children

Question 2

Characteristics of AD disorders?

Answer 2

uncommon and highly variant, biologically complex, gene product typically non-enzymatic and non-diffusible protein

Question 3

Dominant negative effect?

Answer 3

protein encode by mutant gene binds to and disables normal protein

Question 4

Affecting multiple organs?

Answer 4

pleiotropy

Question 5

Variable expressivity?

Answer 5

different features evident in different members of same family