Intro To Genetic Variation

Question 1

What’s the percentage of a population with a polymorphism for it to be considered common?

Answer 1

> 1%

Question 2

What are SNPs? What’s haplotype?

Answer 2

Single nucleotide polymorphism.
Single base substitution
Series of SNP alleles

Question 3

What’s so special about closely located SNPs?

Answer 3

They may be correlated in LINKAGE DISEQUILIBRIUM.

Ie if u have SNP in one position you can figure out SNP in other location

Question 4

What’re tandem repeat polymorphisms? Uses?

Answer 4

DNA sequences that occur repetitively

Used as microsatellite markers (short tandem repeats) in forensic investigations/ identity testing

Question 5

Diseases involving TRPs

Answer 5

1. Huntington’s disease: CAG repeated >36 times

2. ALS: GGGGCC repeat >100 times on chromosome 9

Question 6

2 types of structural variation. 1 example

Answer 6

1. CNV (copy number variant)/CNP: Deletion/duplication of a segment of DNA
   Duplication/deletion ion chromosome 16-> delayed development/behavioural problems/ autism
2. Chromosome inversion

Question 7

What’s de novo

Answer 7

Occurring for the first time in a family member

Question 8

Hardy weinberg equilibrium assumptions

Answer 8

1. Large population
2. No migration
3. No new mutations
4. No selection
5. Random mating
6. Random transmission
7. Random survival

Question 9

What’s genetic drift

Answer 9

Genetic variations change fq naturally over Long periods of time

Question 10

What affects allele fq

Answer 10

1. Genetic drift
2. Selection
3. Fitness to reproduce
4. Migration