Human Genome Summary Notes

Question 1

Why was the human genome sequenced

Answer 1

To find all the human genes and identify the totes and extent of variation in the human population

Question 2

How many human protein coding genes are there and hoe much of the genome codes for proteins?

Answer 2

There are 20,000 human protein coding genes and less then 2% of the genome codes for proteins
There are no unique human genes - still don’t know what all the genes do

Question 3

Are genomes diverse ? Which race vary the most?

Answer 3

All humans are 99.9% similar at sequence level, regardless of race or enithincy
African genomes vary the most

Question 4

What is the key driver of evolution?

Answer 4

Variation is the key driver of evolution - most variation is inherited but each human also has their own small number of unique variants

Question 5

What can knowledge of variation be used for?

Answer 5

• to diagnose genetic disease
• to determine which drugs will work best in a patient
• determine close relatives
• species origin

Question 6

What are SNPs

Answer 6

• SNPS are single base pair sites in the DNA that vary commonly in the population
• while some variants affect protein function, most do not
• other common variation are STRs, InDels and CNVs