L22 - Why sequence the Human Geonome

Question 1

What is the Human geonome?

Answer 1

A blueprint of our genes

Question 2

How many base pairs in the human geonome

Answer 2

6 Billion

Question 3

When was the gonome projected started

Answer 3

1990

Question 4

What did the Human geonome project aim to do?

Answer 4

*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.

Question 5

Why is geonome data generally public?

Answer 5

So people can get to know about themselves

Question 6

What is the geonome?

Answer 6

complete set of DNA of
an organism, including all its genes

Question 7

What is geonomics?

Answer 7

Study of the human geonome

Question 8

How much percent of our geonome is used to make proteins?

Answer 8

2%

Question 9

Are our genes similar to a nematode?

Answer 9

Yes we have similar amounts of genes (20,000) but different ways in how they are expressed

Question 10

What is meant by “our geonome is dynamic”?

Answer 10

It is constantly evolving

Question 11

What are exons?

Answer 11

The 2% of DNA that codes for our proteins, coding regions

Question 12

What are introns?

Answer 12

The genes in between the exons

Question 13

What are regulatory genes?

Answer 13

The 5% of genes that regulate other? i.e turn them on or off

Question 14

What is the 0.1% of difference in our geonome?

Answer 14

Found in mutations

Question 15

What are SNPs

Answer 15

Single Nucleotide
Polymorphisms “SNPs”-
are sites in the DNA that
commonly vary within
populations

Question 16

Why does the rest of the world have less variation in genes than seen in Africa?

Answer 16

Due to a bottleneck effect, resulting in a small population from Africa populated the rest of the world

Question 17

What do single base pair changes result in?

Answer 17

Variation, not really denoted as mutation as they arent really harmful

Question 18

What does analysing SNPs tell us?

Answer 18

How you relate to others by analysing common SNPs

Question 19

Why don’t SNP’s do much

Answer 19

They don’t often sit in the protein coding regions

Question 20

What are linked SNPs?

Answer 20

Like linked alleles, inherited together but have no effect on the proteins

Question 21

Causative SNPs

Answer 21

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

Question 22

What are STRs

Answer 22

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”

Question 23

What are InDels?

Answer 23

*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