Genetic Basis Of Disease Flashcards

1
Q

What is an SNV?

A

Single nucleotide variation

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2
Q

What is a CNV? What types are there?

A

Insertion
Deletion
Inversion
Duplication

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3
Q

What’s the difference between the frequency of a common and a rare genetic variation?

A

Rare = <1% of population, common = >1%

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4
Q

What are the types of genetic disease?

A

Mendelian (single gene)
Multifactorial
Mitochondrial
Chromosomal

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5
Q

What is a GWAS?

A

Genome wide association study- shows links between genes and diseases

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6
Q

What are the comorbidities associated with psoriasis

A
Depression
CVD
Obesity 
Inflammatory bowel disease (IBD)
Psoriatic arthritis
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