L22 - Why sequence the Human Geonome Flashcards
What is the Human geonome?
A blueprint of our genes
How many base pairs in the human geonome
6 Billion
When was the gonome projected started
1990
What did the Human geonome project aim to do?
*identify all human genes, and their roles.
*analyze genetic variation between humans.
*sequence the genomes of several model organisms
used in genetics.
* develop new sequencing techniques and
computational analyses.
* to share genome information with scientists and the
general public as fast as possible.
Why is geonome data generally public?
So people can get to know about themselves
What is the geonome?
complete set of DNA of
an organism, including all its genes
What is geonomics?
Study of the human geonome
How much percent of our geonome is used to make proteins?
2%
Are our genes similar to a nematode?
Yes we have similar amounts of genes (20,000) but different ways in how they are expressed
What is meant by “our geonome is dynamic”?
It is constantly evolving
What are exons?
The 2% of DNA that codes for our proteins, coding regions
What are introns?
The genes in between the exons
What are regulatory genes?
The 5% of genes that regulate other? i.e turn them on or off
What is the 0.1% of difference in our geonome?
Found in mutations
What are SNPs
Single Nucleotide
Polymorphisms “SNPs”-
are sites in the DNA that
commonly vary within
populations
Why does the rest of the world have less variation in genes than seen in Africa?
Due to a bottleneck effect, resulting in a small population from Africa populated the rest of the world
What do single base pair changes result in?
Variation, not really denoted as mutation as they arent really harmful
What does analysing SNPs tell us?
How you relate to others by analysing common SNPs
Why don’t SNP’s do much
They don’t often sit in the protein coding regions
What are linked SNPs?
Like linked alleles, inherited together but have no effect on the proteins
Causative SNPs
non-coding SNP - Changes the expression of the protein i.e turns the gene on or off
*Coding SNP - Affects the shape of the protein, especially if it changes the first base pair of an amino acid
What are STRs
Short Tandem Repeats (STRs)
and DNA profiling
* STRs are repeats of 2-5
nucleotides, found in specific
regions of genome
* Each person inherits 2 alleles,
one from each biological parentwhich can be different lengths
* They can be used to create
genetic profiles, or “DNA
fingerprints”
What are InDels?
*Second most common variant type in human genome
* One of the most common genetic human diseases,
cystic fibrosis, is caused by CFTR deltaF508, which is
a 3 nucleotide deletion
Can cause “frame shift”- change in the way DNA is read, if in protein-coding regions Insertion of one letter
Deletion of two letters, can result in a stop codon to be produced
