Lecture 1 - Genetics in Medicine Today Flashcards
1
Q
Two major types of mutations:
A
Transitions - change purine to purine or pyramidine to pyramidine
Transversions - change purine to pyramidine or vice versa
2
Q
What are the 3 classes of genetic diseases?
A
- Monogenic
- Polygenic/multi factorial
- Chromosomal aberrations
3
Q
Silent, nonsense, and missense mutations are what type of mutations?
A
Base substitutions
4
Q
What is a nonsense mutation?
A
A point mutation that codes for termination of protein synthesis.
5
Q
What type of studies look for differences in the frequency of genetic alleles between disease individuals and healthy individuals?
A
Association studies
6
Q
What is a hap map?
A
A common database of human DNA sequence variations (SNPs)
