Transcript Higher Human Biology unit 1 section 3 BIOINFORMATI

• (d) Human genomics.
(i) Sequencing DNA.
• Bioinformatics is the use of computer
technology to identify DNA sequences.
• Systematics compares human genome
sequence data and genomes of other
species to provide information on
evolutionary relationships and origins.
• Watch: cancer and the genome: the issue
film
What is the Human Genome?
Definition: Genome – the whole
hereditary information of an
organism that is encoded in the
DNA.
Genomics is the study of the
genome.
• It involves determining the
sequence of the nucleotide base
molecules along the DNA
• The sequence of bases can be
determined for individual genes
and entire genomes
What was the Human Genome Project?
• Main aims of the project:
• To identify the approximate 100,000
genes in the human DNA.
• Determine the sequences of the 3 billion
bases that make up human DNA.
• 14 Apr 2003 – The finished human genome
• http://www.bbc.co.uk/learningzone/clips/dn
a-and-the-human-genomeproject/6015.html
• bang goes the theory HGP ethics
• http://www.bbc.co.uk/learningzone/clips/et
hics-of-the-human-genomeproject/8732.html
Bioinformatics
• Is the use of computer
technology to identify
DNA sequences
• The enormous amount of
data produced by DNA
and protein sequencing can
be managed and analysed
using computer technology
and shared over the
internet
• Computer programs can be
used to identify
– Gene sequences by looking
for coding sequences similar
to know genes
– Start sequences (there is a
good chance that each of
these will be followed by a
coding sequence
– Sequences lacking stop
codons (a protein coding
sequence is normally a very
long chain of base triplets
containing no stop codon
except the one at its end
Sequencing technology
• Sequencing technology
is advancing rapidly.
• In 10 years DNA
sequencing will become
part of routine medical
screening.
Image by Roy Kaltschmidt, LBNL.
What is genotyping?
• Genotyping involves looking
at particular regions of the
genome that are known to
vary between individuals.
• Information from genotyping
can indicate:
–
–
–
–
disease risk
drug responsiveness
carrier status for disease
personal traits such as eye
colour.
Image by Kat M Research, Flickr.
What is genome
sequencing?
• Genome sequencing
involves finding out
the whole sequence
of a person’s DNA.
• Commercially
available personal
genome sequencing
currently costs
between £6,000 and
£12,000.
Image courtesy of Wellcome Library, London
Genes vs environment
• A predisposition
means that people
with a particular
genotype tend to have
an increased risk of
developing a disease.
• Lifestyle plays a
significant role in
increasing or
decreasing the risk of
developing some
Environment
Infectious
Disease
Obesity
Type 2
Diabetes
Genes
Monogenic
Genome generation
Info cards (10 minutes)
About the risk gene ApoE-e4
Genetic counselling
Top issues
• Decide what are the two top issues that
come out of the scenario.
• Highlight these as they will be used in
feedback session.
• Remember to write notes throughout the
discussion.
Issue cards (10 minutes)
Scenario 2
• In 2025, Jill is 30. She has
a
young baby.
• She wants to get
genotyped.
• Test will reveal a mutation
linked to Schizophrenia.
If you were Jill, would you
want to know you had a
increased risk of Schizophrenia?
Scenario 3
• In 2027, Sam is 50.
• He has a family history of
heart attacks.
• Insurance company
wants
Sam to be genotyped
before offering health
insurance.
Should Sam take the
test?
Scenario 4
• In 2024, Heather and her
husband get genotyped.
• Heather is an identical
twin.
• Heather finds out she is
at increased risk of
developing Alzheimer’s
disease.
Should Heather tell her
sister and parents
Scenario 5
• In 2025, Pete has a
serious skin infection.
• Doctor want to prescribe
flucloxacillin.
• A genetic test can identify
if Pete is at risk of side
effects.
Should Pete take the
test?
Scenario 6
• In 2026, Olly and Lily are
expecting their first child.
• They have the option of
having the baby’s
genome sequenced at
birth.
• The results will be kept
on a medical ID card.
Should Olly and Lily have
the baby’s genome
Scenario 7
• In 2024, Andy bought an
online genotyping kit.
• Andy also bought one for
his father, but the results
suggest that George is
not his biological father.
Should Andy tell his
father the results?
Scenario 8
• Lin is a scientist
investigating childhood
developmental disorders.
• Genome sequencing
reveals one child is at risk
of developing a rare eye
cancer.
What should Lin do?
• Now read the bioinformatics articles
What’s the relationship?
Put these into a classification
tree, what information will you
use?
Use appearance and anatomy
… into a classification
Put these
tree, what information will you
use?
Extension ; Why classify?
Systematics
• Is the study of a group
of living things with
respect to their
diversity, relatedness
and classification
• It compares human
genome sequence data
and genomes of other
species to provide
information on
evolutionary
relationships and
origins
• Now do the DNA profiling SAPS protocol
to discover the link between wild plants
• DNA profiling alcoholism scenario
Sequencing DNA
• BBC Horizon: A decade of the human
genome project.
• https://www.youtube.com/watch?v=V7vlxx
n2hK8
Sequencing DNA
• A genome is an organisms entire set of DNA.
Genomics is the study of genomes.
• Bioinformatics is the use of computer
technology to map genomes and identify DNA
sequences.
• We can use this information to improve our
understanding of evolution and the origins of
species.
Bioinformatics thinking questions
1. Should government take control of storing our genetic
information?
2. Should genetic testing be performed when no treatment
is available?
3. Should parents have the right to have their minor
children tested for adult onset diseases?
4. Can people always control their behaviour?
5. Will patenting DNA sequences limit their accessibility
and development into useful products?
6. Should the NHS prioritise spending money reducing the
waiting lists of thousands of patients stuck on hospital
surgery waiting lists for life threatening diseases, or
invest the money in genomic research?