GENOMES

Much of who and what you are is determined by your genes. Genes determine many of the traits
and characteristics that make you, you. A gene is a segment of double-stranded DNA that contains
information that codes for the production of a particular protein or function. Located on specific
chromosomes, humans possess around 20 000 – 24 000 genes. The position occupied by the
gene on the chromosome is called its LOCUS. Genes that are located on the same chromosome
are described as being LINKED.

The total set of genes within an individual or cell is referred to as its GENOME. The study of
genomes is called genomics. Genome maps describe the order of genes and the spacing between
them on each chromosome. The genome size is often described in terms of the total number of
base pairs (or bp). The genome size for organisms varies considerably: humans have about three
billion pairs, fruit flies about 160 million and brewer’s yeast around 12 million. Much of our
knowledge has been founded on the research efforts of scientists over many years.

In 1936, after years of experimenting, Walter Sutton inferred that the inherited characteristics of
fruit flies were carried on the chromosomes in the cell. In March 2004, scientists who had been
experimenting collaboratively for 5 years found there were 250 million bases in the DNA in each
fruit fly cell. They also determined the order in which the bases are arranged on the DNA.

The whole of the fruit fly’s genetic information is found in these 250 million bases and is called its
GENOME.

WHAT MAKES UP A GENOME

The researchers working on the fruit fly genome have also identified 13,601 genes on the DNA.
These genes are made up of thousands of bases. The average gene contains about 2000 bases. If
you multiply the number of genes by the number of bases an average gene contains, you find that
the genes make up less than 20 % of the genome.

The larger part of the genome contains sections that control how genes are turned on and off.
There are also long sections of bases that are non-coding, and these may influence how the DNA
replicates.
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THE HUMAN GENOME PROJECT

The Human Genome Project (HGP), which ran from 1990 to 2003, mapped the position of the
genes in the human genome. This massive task was co-ordinated by the United States National
Institutes of Health and involved hundreds of scientists from at least 18 countries, including
Australia. By the time the HGP had finished it had:

 Identified 20,000 protein-coding genes in human DNA, and another 2000 DNA segments
that are predicted to be genes.
 Determined the sequence of the 3 billion bases on human DNA.
 Stored the information on databases.
 Addressed ethical, legal and social issues that arose from the project.

The expected benefits of the HGP are:

 Improved diagnosis of disease.

 Treatment of genetic diseases such as cystic fibrosis.
 Manufacture of custom drugs.
 Replacement of defective genes.
 Reduced risk of inheritable mutations.
 Improved techniques for DNA identification in legal and criminal cases.
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HGP – THE FUTURE?

Although the HGP was coordinated by government departments, one of the project’s aims was to
transfer all the technologies to private companies. Now much of the HGP follow up research is
being done by private commercial companies, particularly multi-national US-based companies,
who expect to earn billions of dollars through sales of new drugs, equipment, technologies and
information.

However, will the knowledge of the human genome benefit all humankind? Here are some
problems that might arise:

 Will treatment and diagnosis be so expensive that only the rich will benefit?
 Will an individual’s genetic file be private and secure, or will it be available to banks, health
funds and insurance companies.
 Will the large companies patent their drugs so that they control certain treatments?

JUST THE INGREDIENTS

It was anticipated that once we had the human genome sequence, many mysteries would be
unlocked and a new understanding of who we are would be unwrapped. Unfortunately, rather than
an explosion of wonder and explanation, the sequencing only promoted more questions. Just like
knowing the ingredients of a cake or the components of a car, we had the list, but not the delicious
cake or speeding car.

The study of various genomes has revealed that the same genes that cause a fly to be a fly were
also used to make a human a human. Parts of our genome are virtually interchangeable with those
of our close primate ‘cousins’. Rather than revealing the source of our diversity and uniqueness,
our genome brought us closer to that of other life on Earth.
 GENOMES

EPIGENETICS

While the HGP and its technologies provided us with information about the sequence of DNA, it is
only part of the story. To understand more about its function, we may need to know more about the
DNA of our ancestors. Maybe there are particular environmental triggers that switch on or off
particular genes? If some of these involve lifestyle triggers, then could we be affected by the
events our ancestors experienced? A new field called EPIGENETICS suggests that this may be
the case. This idea suggests that chemical changes can occur through environmental exposures
and experiences that modify the DNA to a switched on or off form, and that these changes can be
inherited.

This theory suggests that experiences of your great grandmother, for example, may have switched
particular genes of hers on or off, and the modified gene(s) may have been passed on. Will you be
involved in activities or events that change which of your genes are switched on, and then pass
genes in this form to future generations?

GENE SEQUENCING

Gene sequencing identifies the order of nucleotides along a gene. DNA sequencers use four
different coloured fluorescent dyes (each binding to A, T, C or G in DNA) to identify the nucleotide
sequence as it builds a complementary copy to the DNA template sample provided.

QUESTIONS

1. Suppose you have no family history of genetic diseases, and are thinking about having children.
Should you ask your partner to have a DNA test done to make sure that their genome is disease-
free?

Yes

2. Some life insurance companies are suggesting that a person’s genetic file be submitted when
they apply for life insurance, so that the company can assess whether that person is a high-risk
case. What do you think? Give reasons for your answer.

Insurance should be based on normal medical health not what could be. Someone may be
susceptible to future illness given the right environmental conditions but this may never come to
fruition

DNA DETECTIVE WORK

With the completion of the Human Genome Project and advances in computer technology, large
segments of DNA or even the whole genome may, in the future, allow precise identification of an
individual. This is important in the following situations:

 Matching donor organs with recipients in transplant operations.

 Identifying suspects whose DNA matches evidence left at a crime scene.
 Exonerating people who are wrongly accused.
 Identifying victims in major accidents, catastrophes or natural disasters.
 Establishing paternity of a child.
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HOW IS DNA USED TO IDENTIFY PEOPLE?

Detectives and forensic scientists have to gather a number of pieces of evidence together in order
to convict a person of a crime. For example, a suspect’s blood type and fingerprints are compared
with those found at the crime scene, as are pieces of hair or fabric from their clothes and the tread
of their shoes. All these pieces of evidence have to prove ‘beyond reasonable doubt’ that the
suspect is the guilty person.

When using DNA to convict people, forensic scientists have to match the sequence of bases in a
number of regions of the DNA of the suspect with those of the DNA samples found at the crime
scene. Since only 0.1 % of your DNA is different from anybody else’s, scientists have to match
base sequences of the DNA in regions that vary greatly from one person to another.

A court will not convict a person when only one or two of the DNA base sequences match. This is
too little evidence. However, when at least five DNA base sequences match, a jury can be
confident ‘beyond reasonable doubt’ that the suspect is the guilty person.

SOLVING THE FRENCH ROYAL MYSTERY

In 1795, Louis-Charles, the young son of King Louis XVI and Marie-Antoinette, supposedly died in
a Paris prison. But many people believed he had escaped the brutality and executions of the
French Revolution and fled to England.

In April 2000, scientists used DNA – matching technology to try to solve one of history’s greatest
mysteries. They used some tissue from the young prince’s suspected remains and compared the
DNA in it with the DNA in the hair from his mother, as well as other samples from living and dead
members of the royal family. The DNA-matching tests showed that the tissues were from the
young prince, but many people are still not convinced.

TESTING THE FOETUS

If parents know that one or both of them has a family history of genetic disorders, doctors may
suggest that the pregnant woman has one or more tests. Doctors also know that children born to
women more than 37 years old have a greater chance than normal of having genetic disorders
such as Down syndrome. Doctors will first suggest an ultrasound test when the woman is about 11
– 13 weeks pregnant. In this test reflected sound waves generate a picture of the foetus. If doctors
suspect an abnormality, they may recommend other tests.

In a test called genetic amniocentesis, a fine hollow needle is passed through the abdomen of the
pregnant woman and into the amnion. This is the fluid-filled sac surrounding and protecting the
foetus. A tiny amount of amniotic fluid is withdrawn and tested.

High levels of protein in the fluid may indicate diseases such as spina bifida. DNA in the foetal cells
that are found in the fluid are tested to check for Down syndrome and other genetic abnormalities.
However, because amniocentesis is an invasive test, there are certain risks. About one in every
200 tests results in a miscarriage.

If the woman is found to be carrying an abnormal foetus she may be given choices of action. She
may continue with the pregnancy or she may terminate the pregnancy before the legal limit (28
weeks in most states of Australia).
 GENOMES

QUESTIONS

3. Biologists estimate that 99.9 % of all your genes are similar to the genes of other people. The
other 0.1 % makes you different. However, about 80% of your genes are the same as those in a
cat or a dog, and about 60% are the same as in an earthworm. What can you infer from this
information?

All species are somewhat related

The processes that occur in living organism are very similar. The DNA blueprint is the basis for a
continuation of a species and contains a lot of the same components. How these components are
expressed is what makes organisms different

4. Insulin is a relatively small protein, having a total of 51 amino acids in its structure. What is the
smallest number of bases on a DNA strand needed to code for insulin?

153 bases

5. Man A believes he is the father of a child. The mother believes that man B is the father. How
would you use DNA technology to go about solving this problem?

If the child’s DNA closely relates to his father then we know that those two are related.

When using DNA to test paternity, forensic scientists have to match the sequence of bases in a
number of regions of the DNA of the two possible fathers with those of the DNA samples of the two
possible fathers with those of the DNA samples of the offspring. Since only 0.1 percent of your
DNA is different from anybody else’s scientists have to match base sequences of the DNA in
regions that vary greatly from one person to another with the baby

6. Suppose a mutation occurs in a sperm cell of an animal and a gene is altered. This sex cell
fertilises an ovum and an offspring is produced. However, many mutations are fatal and the
offspring dies. Use knowledge of the materials genes make to suggest why this occurs.

An alteration in gene would cause a frameshift in the bases which would produce different amino
acids which will usually end up in making a faulty protein. This would damage the conception
process
 GENOMES

It may not make a particular protein that is needed for proper body functioning or it may make not
differentiate between cells and their functions both of which may be fatal

7. Who do you think should know if you had a higher risk of dying from a genetic disorder in 15
years’ time?

Children and doctor

8. Did the sequencing of the human genome answer our questions about why humans are unique?
Explain.

We can understand the differences between humans and other species.

The study of various genomes has revealed that the same genes that cause a fly to be a fly were
also used to make a human a human. Parts of our genome are virtually interchangeable with those
of our close primate ‘cousin’s. rather than revealing the source of our diversity and uniqueness, our
genome brought us closer to …

9. Different genetic instructions within and between species are due to different nucleotide
sequences in their genes. The table below shows part of the sequences of different genes from
various organisms.

(a) Suggest how they are similar.

They use the same bases

(b) Suggest how they are different.

The sequence of bases (codons) are different

(c) Suggest a reason why they all use the same letters in their genetic coding system.

The letters stand for specific bases which are common to the three organisms

10. Use the internet to find out about other ways to test the health of a foetus. Try looking for
chorionic villus sampling (CVS) and the maternal serum test. Write a brief description of these
tests.

Chrorionic villus sampling

 GENOMES

- A test made in early pregnancy to detect congenital abnormalities in the fetus, in which a
tissue sample is taken from the villi of the chorion.

Maternal serum test

- A blood test offered to pregnant women that determines the risk of Down syndrome.