Why Sequence the Human Genome

Question 1

This is a complete set of DNA of an organism including all genes

Answer 1

Genome

Question 2

Study of genomes

Answer 2

Genomics

Question 3

Why is the human genome sequenced?

Answer 3

• to identify all human genes
• to analyse genetic variation between humans

Question 4

sites/sequences in DNA that vary within a population. These are common single base pair changes/variants

Answer 4

Single Nucleotide Polymorphism

Question 5

These SNPs have no effect on the amount of protein produced or the sequence of amino acids

Answer 5

Linked SNPs

Question 6

These SNPs can change the amount of protein

Answer 6

Non-coding SNPs

Question 7

These SNPs can change the amino acid sequence

Answer 7

Coding SNPs

Question 8

These are repeats of 2-5 nucleotides in a genome sequence

Answer 8

Short Tandem Repeats

Question 9

These are small insertions/deletions in the genome sequence. It is the main cause of cystic fibrosis and is the second most common variant type in human genome.

Answer 9

InDels

Question 10

Type of variation where chunks of DNA sequences that are present vary between each genome.

Answer 10

Copy Number Variations (CNVs)

Question 11

What is the key driver for evolution?

Answer 11

Variation

Question 12

Knowledge of variation can be used to do what?

Answer 12

Diagnose disease, determine which drugs will work best in a patient, and to determine our origins

Question 13

What can alleles be used for?

Answer 13

To create a genetic profile/DNA fingerprint

Question 14

What are key findings of the human genome?

Answer 14

• fewer genes than expected
• less than 2% of our genes codes for proteins
• genome is dynamic
• we have more to learn
• human genes are related to those of other animals
• humans are 99.9% similar at sequence level but there is still VARIATION

Question 15

Where are non-coding SNPs found?

Answer 15

In regulatory sequences

Question 16

Where are coding SNPs found?

Answer 16

In coding sequences/regions

Question 17

Where are linked SNPs found?

Answer 17

Outside of the gene