Population genetics and normal variation

Question 1

Hardy-Weinberg law

Answer 1

• Large population
• Completely random mating
• no denovo mutation
• no migration
• no natural selection
  Allele frequency does not change from one generation to the other

Question 2

indels

Answer 2

Small deletions and insertions

Question 3

Copy number variants

Answer 3

Term used to refer to very large deletions and duplications (>10 kb)

Question 4

Short- and medium-length tandem repeat polymorphisms

Answer 4

such as trinucleotide repeats; also other repeat lengths

Question 5

What do new mutations do in small populations?

Answer 5

genetic drift -> random fluctuation leads to rise or fall of allele frequencies for new mutations

Question 6

When do most common variants across human populations date back to?

Answer 6

ancient humans because once the population becomes very large, new mutations no longer rise to high frequency

Question 7

reference genome

Answer 7

A standard “normal” human genome used as a reference, combined mosaic of a small number of anonymous donors, originally of European origin but now incorporating other groups