lecture 22

Question 1

What is the human genome

Answer 1

a project to identify all human genes and their roles

analyse genetic variation between humans

Question 2

What is a genome

Answer 2

a complete set of DNA of an organism, including all it’s genes

Question 3

Genomics

Answer 3

study of genomes

Question 4

What are the differences between nuclear DNA and Mitochondrial DNA

Answer 4

Nuclear DNA 
22 autosomes, x,y
6 billion base pairs 
half from each parent 
- <21,000 genes 

mitochondrial DNA 
single, circular
16, 569 base pairs 
all from mother 
37 genes

Question 5

What are the key findings of the human genome

Answer 5

fewer genes than expected
less than 2% of genome code for proteins
dynamic
99% similarity at sequence level

Question 6

What are SNPs

Answer 6

Single nucleotide polymorphisms 
sites in DNA that commonly vary within populations 
1 in 300 nucleotides 
SNP's from parents 
sequenced adds to variation

Question 7

What are STRs

Answer 7

short tandem repeats
2-5 nucleotide repeats
specific regions
give genetic profiles

Question 8

What are inDels

Answer 8

small insertions or deletions

second most common varitant

Question 9

What are CNV’s

Answer 9

copy number variations
chunks of DNA > 500 base pairs, present at different amounts relative to a reference genome
deleted or duplicated
associated with sensory perception/information