Genetic Basis Of Disease Flashcards
1
Q
What is an SNV?
A
Single nucleotide variation
2
Q
What is a CNV? What types are there?
A
Insertion
Deletion
Inversion
Duplication
3
Q
What’s the difference between the frequency of a common and a rare genetic variation?
A
Rare = <1% of population, common = >1%
4
Q
What are the types of genetic disease?
A
Mendelian (single gene)
Multifactorial
Mitochondrial
Chromosomal
5
Q
What is a GWAS?
A
Genome wide association study- shows links between genes and diseases
6
Q
What are the comorbidities associated with psoriasis
A
Depression CVD Obesity Inflammatory bowel disease (IBD) Psoriatic arthritis