Contribution of genetic changes to human disease Flashcards
1
Q
What is a genetic transition
A
A substitution which conserves the base chemistry
2
Q
What is a genetic transversion
A
A substitution which changes the base chemistry
3
Q
How does inversion of an exon affect splicing
A
Prevents it
4
Q
What is an amporph
A
A variant that causes complete loss of gene function
5
Q
What is a hypomorph
A
A variant that causes partial loss of gene function
6
Q
What is a hypermorph
A
A variant that causes an increase in normal gene function
7
Q
What is an antimorph
A
Dominant alleles which act in opposition to normal gene activity
8
Q
What is does neomorphic mean
A
variants that cause a dominant gain of gene function that is different from normal function
