GENETIC DISEASE & CLONING

CHROMOSOMAL ABNORMALITIES

Sometimes mistake happen during meiosis when the sex cells are being produced and the
information passed on to the next generation is changed.

If the chromatids fail to separate during meiosis, the child will be born with an extra chromosome or
part of a chromosome. This is called chromosomal abnormality. Examples include Down syndrome
and Klinefelter’s syndrome.

Mistakes can happen as DNA is copied. The base sequence is changed, and mistakes occur in the
manufacture of proteins. This type of change is called a MUTATION. Mutations may arise
spontaneously (by chance) or result from damage to a strand of DNA. UV radiation, nuclear
radiation and certain chemicals such as nicotine and asbestos can cause mutations.

If the mutation occurs in the eggs or sperm, then there is a chance that they will be passed on to
the next generation.

MUTAGENS

Natural mutations occur at a continuous low rate. However, environmental factors called
MUTAGENS can increase the frequency of mutations. Mutagens include chemicals, radiation and
ultraviolet (UV) light. Their effects are listed below:

 Radiation: Ionises biochemical compounds in cells forming free radicals. The free radicals
cause damage to DNA and proteins. This damage may include breakages in
chromosomes.
 Chemicals: Some chemicals insert into DNA instead of bases. In other words, they
substitute for bases. Other chemicals insert between bases, causing problems when the
DNA replicates.
 UV Light: Causes thymines that are close together on a DNA chain to bind together,
forming ‘thymine dimers’. This causes problems during DNA replication.

GENETIC TESTING

If parents-to-be 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 a fluid-filled sac surrounding and protecting the foetus. A tiny amount
of amniotic fluid is withdrawn and tested.
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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 Australia).

CLONING

In sexual reproduction, a sperm and egg meet to produce an offspring that is genetically different
from its parents. In asexual reproduction, there is no meeting of a sperm and egg. The offspring is
genetically identical to the parent. A CLONE is the term used to describe the asexual reproduction
of an organism or a cell.

In 1997 Scottish scientists created history by cloning a lamb from an udder cell of a ewe – a female
sheep (sheep A). The DNA from the udder cell was removed and fused with a cell from another
ewe (sheep B), which had its nucleus removed. After fusion the new cell began to grow. After six
days the embryo was implanted into another ewe (sheep C), who gave birth to a lamb called Dolly.
However, Dolly was put down prematurely at 6 years old because she developed diseases of old
age as her cells were as old as her mother’s.

Since Dolly, mice, goats, cows, pigs and a horse have been cloned. It is only a matter of time
before an attempt is made to clone a human. The ‘Prohibition of Human Cloning Act’ was passed
by the Australian Government in 2002. This act prevents cloning and the trade of embryos, eggs
and sperm in Australia.

GENETIC MODIFICATION

Scientists have developed gene technologies that enable plant cells to be GENETICALLY
MODIFIED. In genetically modified (GM) organisms, the genetic information is changed by
inserting new genes. The new genes are then copied to all the daughter cells when the parent cell
divides by mitosis. These modified cells will mature (grow up) into a completely new strain of plant.

Using genetic modification, desirable traits such as insect resistance and increased nutrient value
are added to plants. This technology has benefits but it also causes controversy.
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CANOLA

Canola is a crop that produces edible oil. Western Australia is a major canola producer with
exports valued at $535 million in 2008-2009. By 2010, Western Australia, Victoria and New South
Wales allowed farmers to grow GM canola. GM canola is resistant to herbicides that are commonly
used to control weeds. Farmers can spray herbicide on the crop and kill the weeds but leave the
canola unaffected. Production costs are reduced, enabling growers to compete in international
markets.

GOLDEN RICE

Rice is the main food source for more than half the world’s population. White rice lacks essential
minerals and vitamins, including vitamin A. Vitamin A deficiency is a cause of childhood blindness
that affects up to 500 000 children worldwide each year. Golden rice-2 is genetically modified using
genes from daffodils, corn and bacteria. The rice contains beta-carotene, the chemical that gives
carrots their orange colour, and which the body converts into vitamin A.

About 225 grams of cooked Golden rice-2 would provide 50-60 % of the recommended adult
dietary allowance of vitamin A.

Golden rice-2 was developed to help people in developing countries where blindness due to
vitamin A deficiency is a problem. However, there has been significant opposition from
environmental and anti-globalisation groups to the commercial production of Golden rice-2. At
present, this GM product is still grown for research but is not grown for human consumption.

QUESTIONS

1. A cell from an embryo was extracted as the cell was undergoing mitosis. The chromosomes
were put into pairs and numbered.

(a) Is anything wrong with this embryo?

It has an extra chromosome 21

(b) What is this called? What problems would this cause?

Down syndrome or trisomy 21

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(c) Is the embryo a male or female?

Male as it has one of each sex chromosomes

2. Which environmental factors can increase the rate of mutations in organism?

Radiation, chemicals and UV light

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

A defective gene may not code for a protein essential for the cell functioning of the new offspring
and so the offspring dies

4. Human cells can be cloned to replace organs. If a patient’s cells are cloned and a new organ is
grown, the patient’s body is less likely to see the organ as foreign, so organ rejection is less likely.
This is called therapeutic cloning. Should this type of cloning be allowed?

yes

5. Define mutation.

The alteration of the nucleotide sequence in a genome

6. What is a mutagen? Give some examples of mutagens and how they cause mutations.

A mutagen is a factor that leads to mutations within an organism.

What is the cause of this characteristics

abnormality
Trisomy 21 Extra chromosome 21
Klinefelter Syndrome Extra Y chromosome Enlarged breasts
Turner Syndrome Missing X Chromosomes in
females

7. List an advantage of prenatal testing and a disadvantage.

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8. Describe the advantages that genetically modified plants have over other varieties of:

(a) Rice:

Golden rice has increases vitamin A

(b) Canola:

GM Canola is resistance to herbicides

9. Name a genetically modified crop grown in Australia.

GM Canola

10. Why do radiographers wear special protective clothing and use remote controls for taking X-
rays?

To avoid mutations

11. What are clones?

term used to describe the asexual reproduction of an organism or a cell.

12. Why is Dolly famous?

It the first clone organisms

13. Refer to the diagram of Dolly to answer the following questions.

(a) What had to be done to the unfertilised egg taken from ewe B.

It has to be fertilised with another cell

(b) How did the donor cell DNA from ewe A get inside the ‘empty cell’ from ewe B?

fertilisation

(c) What was the role of ewe C?

To hold the zygote

14. Which ewe was the original Dolly?

Ewe A
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15. Does Dolly have any genetic material from a ram?

No as it is a clone and doesn’t inherit any genes from the other parent

16. Let’s put it all together. Use the word list to complete the following sentences.

MUTATIONS, PHENOTYPE, KARYOTYPING, GENETICS, HETEROZYGOUS, AUTOSOMES,

DOMINANT, INHERITANCE, HOMOZYGOUS, GENES, CHROMOSOMES, GENOTYPE,
PUNNETT, PEDIGREE, CENTROMERE, CHROMATIDS, SIMILARITIES.

As children of our parents we share many physical (1) with them.

1: similarities

The passing on of traits or characteristics from one generation to another is called (2).

2: inheritance

The study of patterns of inheritance is called (3).

3: genetics

There are 23 pairs of (4) in a human body cell. Other living organisms may have more or fewer
pairs.

4: chromosomes

The millions of short sections on each chromosome are called (5).

5: genes

Each chromosome is made up of two (6) held together by a (7).

6: chromatids

7: centromeres

(8) is the process of sorting chromosomes into their matched pairs.

8: karyotyping

A trait like brown eye colour is said to be (9) over blue eye colour, which is said to be a recessive
characteristic.

9: dominant

The appearance of an individual is said to be its (10) while the actual genetic code of the individual
is referred to as its (11).

10: phenotype
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11: genotype

A (12) individual will have two alleles which are the same and a (13) individual will have two alleles
which are mixed.

12: homozygous

13: heterozygous

A (14) square is used to determine the ratio of offspring with certain characteristics.

14: punnett

Of the 23 pairs of chromosomes in a human body cell, the 22 matching pairs are called (15).

15: autosomes

A (16) chart displays a record of certain genetic information about members of a family.

16: pedigree

Uneven sharing of chromosomes and other genetic errors are referred to as (17)

17: mutations