Lecture 22

Question 1

What were the key findings after sequencing the human genome?

Answer 1

• less genes than expected
• less than 2% codes for proteins
• genome is dynamic
• most human genes related to other animals

Question 2

How do humans have differences in genomes?

Answer 2

Single nucleotide polymorphisms (SNPs)

Question 3

What are single nucleotide polymorphisms (SNPs)?

Answer 3

• single base pair changes and variants
• common, 1 in 300 nucleotides
• mostly from parents
• most don’t do anything abnormal

Question 4

What are short tandem repeats (STRs)?

Answer 4

Repeats of 2-5 nucleotides found in specific regions of genome

Question 5

What are InDels?

Answer 5

• small insertions or deletions
• can cause frame shift mutation

Question 6

What are copy number variations (CNVs)?

Answer 6

• chunks over DNA (500bp +) present at different amounts or “copy numbers” relative to reference genome
• many related with sensory genes