Lecture 22: Why sequence the human genome? Flashcards
When did the human genome project begin
1990
What were the 5 goals of the human genome project
identify all human genes, and their roles.
analyze genetic variation among humans
Sequence genomes of several model organisms used in genetics
Develop new sequencing techniques
to share genome info with other scientists and public
What are some Key Findings of the
Human Genome
Fewer genes than expected. Less than 2% code for proteins
The genome is dynamic
What are introns
a segment of a DNA or RNA molecule which does not code for proteins and interrupts the sequence of genes.
what are exons
coding genes
What are SNPs
Single Nucleotide Polymorphisms
Sites in the DNA that commonly vary within populations. (what makes us different)
Mostly from your parents
Roughly how common are SNPs (out of nucleotides)
1 in every 300 nucleotides
What are STRs
Short Tandem Repeats
Repeats of 2-5 nucleotides found in specific reigons of genome
They can be used to create genetic profiles, or “DNA fingerprints”
What are InDels
small insertions or deletions
They are a variant type in humans
What can happen as a result of InDels
Can cause “frame shift”-
change in the way DNA is read,
if in protein-coding regions
What is a common genetic disease caused by deletion
cystic fibrosis. is caused by CFTR deltaF508, which is a 3 nucleotide deletion.
What are CNVs
Copy number variation. Changes in number of copies of specific DNA segments in an individuals genome
How many CNVs do humans have
10,000 CNVs
What are many CNVs associated with
Many genes found in CNV are associated with sensory perception (e.g. smell) and immunity.
What can genotyping tell you?
Who you are related to
Where (some of) your ancestors came from
Disease risk/association (masked data outside USA)
If you will lose your hair
Your muscle type
How you might respond to drugs
This data can also be used in crime solving
