16 - Patterns of Genetic Inheritance

Question 1

Name 4 types of genetic variation

Answer 1

• Single nucleotide polymorphisms (SNPs)
• intentions and deletions (INDELs)
• Copy number variants (CNVs)
• Large structural variants

Question 2

What are SNPs and give an example

Answer 2

• point mutations
• sickle cell

Question 3

How do INDELs arise?

Answer 3

• can be a 1 base slippage in replication
• can be a whole repetitive sequence slippage in replication
• transposition

Question 4

What are CNVs and give an example?

Answer 4

• Differing number of replicates
• Huntington’s disease - more CAGs

Question 5

Give 4 examples of large structural variants

Answer 5

• INDELs >1000bp
• Inversion - no recombination
• fission - 2 non-homologous chromosomes joined in one
• fission - chromosome splits in two

last two often don’t impair function

Question 6

How would you get a measure of the diversity in nucleotide differences?

Answer 6

pi = (no. nucleotide differences between sequences) / (no. sequences being compares x no sites on whole section)

Question 7

What is the hardy Weinberg equation?

Answer 7

p^2 + 2pq + q^2 = 1

p = dominant
q = recessive

Question 8

Do mutations happen randomly with receipt to where on the genome?

Answer 8

no
- example - C to T is more common as C is methylates then deaminated

Question 9

Are mutations random with respect to what kind of mutation will occur?

Answer 9

No
- SNPs are more common than INDELs and structural mutations

Question 10

Are mutations random with respect to their effect on fitness?

Answer 10

Yes