Introduction to Genetic Variation

Question 1

What is a DNA polymorphism?

Answer 1

A change in the DNA sequence between 2 individuals

Question 2

What is a SNP?

Answer 2

Single nucleotide polymorphism

Question 3

What is a haplotype?

Answer 3

A sequence of SNP’s/alleles along a single chromosome

Question 4

What is it called when SNPs show high correlation, and that if we know one we can predict the other?

Answer 4

Linkage disequilibrium

Question 5

What sequence of bases and amino acid is the tandem repeat polymorphism in Huntingdon’s disease?

How many repeats gives you huntingdons?

Answer 5

CAG

GLUTAMINE

> 40 repeats

Question 6

What sequence of bases is the tandem repeat polymorphism in ALS disease?

How many repeats gives you ALS?

Answer 6

GGGGCC

> 100 repeats = increased risk

Question 7

How do tandem repeat polymorphisms differ from copy number polymorphisms?

Answer 7

CNP have much larger regions that are repeated than RTP (only a feee bases)

Question 8

What does the observed allele frequency calculation allow us to do?

Answer 8

Calculate the allele frequencies from genotypes only

Question 9

What does hardy Weinberg allow us to do?

Answer 9

To go dynamically between allele and genotypes