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Inheritance and Genetic Disorders

The document discusses genetic disorders such as colour-blindness and thalassaemia, explaining their causes, symptoms, and treatments. It also covers the basics of genes and chromosomes, the significance of the Human Genome Project, and the potential of stem cell research and genetic engineering. Key applications of biotechnology, including DNA fingerprinting and gene therapy, are highlighted as well.

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Chris Lai
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0% found this document useful (0 votes)
10 views8 pages

Inheritance and Genetic Disorders

The document discusses genetic disorders such as colour-blindness and thalassaemia, explaining their causes, symptoms, and treatments. It also covers the basics of genes and chromosomes, the significance of the Human Genome Project, and the potential of stem cell research and genetic engineering. Key applications of biotechnology, including DNA fingerprinting and gene therapy, are highlighted as well.

Uploaded by

Chris Lai
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

VIVA Colour-blindness Checkpoint [5.

10]

Name: ……………………………........... Date: ……………………………… VIVA Solution


Form 5 Biology

Chapter 5 Inheritance
VIVA Colour-blindness Checkpoint [5.11]
5.2 [6] Colour-blindness

[1] A red-green colour-blind person cannot distinguish the colours that others see
as green, yellow, orange and red. They are seen as the same colour.

[2] Colour-blindness, like haemophilia, is caused by the recessive allele of a gene


which is carried on the X-chromosome.

VIVA Sex Determination in Humans INFO [5.4]

VIVA Solution

VIVA Colour-blindness Checkpoint [5.12]

VIVA Solution
- Children affected by the disorder are pale, do not sleep well, do not want
to eat, and may vomit.

- These days, with proper treatments, most thalassaemia major patients can
grow up to be adults.

- Treatment:
[i] People with thalassaemia major are currently treated with regular
blood transfusions.

5.2 [7] Thalassaemia [ii] Bone marrow or stem cell transplant is another option.

[1] Thalassaemia is an inherited disorder in which abnormal haemoglobin is


Table 5.7 Thalassaemia
produced by a defective gene. Individuals with thalassaemia need blood
transfusions at regular intervals. VIVA Thalassaemia INFO [5.5]

[2] This disorder occurs mainly in the Mediterranean, the Middle East, India,
Sounthern China, Thailand and Malaysia.

[3] They are two forms of thalassaemia:

[a] Thalassaemia minor [b] Thalassaemia major

[a] Thalassaemia minor VIVA Thalassaemia Checkpoint [5.13]


- Individuals with thalassaemia minor are healthy carriers but some of them
have slight anaemia.

- As such most people will thalassaemia minor do not even know that they
have the disorder. However their red blood cells are different from normal
red blood cells.

[b] Thalassaemia major


- Thalassaemia major causes serious anemia because those affected cannot
make enough haemoblobin.
VIVA Solution
- Red blood cells produced by their bone marrow contain little haemoglobin.
5.3 Genes and Chromosomes

[1] A gene is a unit of inheritance that controls a specific trait. It is a functional


segment of DNA located at a particular place on the chromosomes.

[2] Subunits of DNA are called nucleotides.


5.3 [1] The manifestation of a trait from a Gene

[1] The DNA molecule in each chromosome comprises of numerous shorter


sections called genes each of which contains the instructions for making one
polypeptide. The polypeptides are then assembled into proteins.

[2] Most chemicals in an organism are manufactured with the aid of enzymes
which are proteins. Therefore by determining which proteins are produced, the
DNA can determine the traits of an organism.

Diagram 5.8 A gene

5.3 [2] The Importance of Genetics to Mankind

[1] Exploration of human genes is now a major scientific undertaking. Molecular


scientists are able to manipulate genes and use them to our advantage. This
brand of genetics is called biotechnology, genetic engineering, or DNA
technology.

[2] DNA fingerprinting, gene therapy, and genetically modified food are phrases
that come to mind when biotechnology is mentioned.

DNA fingerprinting
Table 5.8 DNA - is a technique used to distinguish between individuals of the same species
using only samples of their DNA.
[3] Nucleotides can combine by condensation reactions to form a long
polynucleotide chain. - Out of all the genes in the cell, only about 5 % code for proteins. The other
[4] The polynucleotide chains in the DNA molecule are not straight. Instead, they 95 % are non-coding. Non-coding DNA consists of short sequences of bases
are twisted about each other to form a double helix. which are repeated many times.

[5] The nitrogenous bases in DNA are ademine (A), thymine (T), cytosine (C) and - The non-coding sequences do not change and they are called microsatellites.
guanine (G). A always bond with T, and C with G.
- Two unrelated individuals will have different numbers of microsatellites at a
given locus, except in the cases of identical twins who will have identical
profiles.

- After a complex laboratory procedure, the DNA fragments will appear as


bands on an X-ray film.

DNA fingerprints in a family

- Each child inherits one allele from its mother and one from its father.

- Uses of DNA fingerprinting

[a] To identify criminals from blood, saliva, hair or semen found at the scene
of the crime.

[b] To settle dispute over parentage.

[c] To test potential organ donors for compatibility with a particular patient.

[d] To monitor pedigree claims for pets and livestock.

[e] To examine To relation among human populations.

Table 5.9 Uses of DNA fingerprinting


Table 5.10 Process of DNA fingerprinting
5.3 [3] Human Genome Project [4] The adult stem cells found in specific areas of tissue usually remain non-
dividing until they are activated by disease or tissue injury.
[1] A genome is all the DNA, including its genes, in an organism. Genes carry
information for making all the proteins required by an organism. These proteins [5] Adult stem cells are found in the brain, bone marrow, blood vessel, skin,
determine how an organism looks, how it behaves and how well its body skeletal muscle and liver.
metabolises food or fight infection.
[6] The embryonic stem cells can develop into all tissues of the embryo except the
[2] The Human Genome Project aims to map the positions of every human gene gametes. It has greater development potential than adult stem cells.
and to read and decipher every code in the 23 pairs of chromosomes.
[7] Since stem cells are genetically identical to the host, the problem of tissue or
[3] Some benefits of the Human Genome Project: organ rejection can be avoided.

[a] Once a gene is located on a chromosome and its DNA sequence worked out, [8] Potential applications of stem cells include:
scientists can then determine which protein the gene is responsible for and
find out what it does in the body. This is the first step in understanding the [a] Making cells and tissues for medical therapies. The number of people
mechanism of a genetic disease and eventually conquering it. needing a transplant far exceeds the number of organs available for
transplantation.
[b] Genome information helps geneticists predict which individuals have an
increased susceptibility to disorders, such as cancer, heart disease, or diabetes, [b] A better understanding of normal cell development allows scientists to
which results from complex interaction between genes and the environment. understand and rectify the errors that cause cancer and birth defects.

Table 5.11 Some benefits of the Human Genome Project VIVA Genetic Engineering Checkpoint [5.14]

5.3 [4] Potential Stem Cell Research

[1] Stem cells are relatively undifferentiated cells that can develop into different
types of cells in the human body.

[2] When a stem cell divides, each daughter cell has the potential to either remain
a stem cell or become another type of cell with a more specialised function, such VIVA Solution
as a muscle cell, an erythrocyte or a neurone.

[3] There are two types of human stem cells:

[a] Adult stem cells found in small numbers in tissues or organs.

[b] Embryonic stem cells found in the inner cell mass of the blastocyst.
Diagram 5.9 How fully differentiated tissue is grown from embryonic stem cells

5.3 [5] Genetic Engineering

[1] Genetic Engineering is the modification of the characteristics of an organism


by manipulating its DNA.

[2] Applications of genetic engineering include:

[a] Gene therapy


[b] Genetically modified organisms
[c] Genetically modified foods Diagram 5.10 The Manufacture of insulin using the bacteria Escherichia coli
[d] Production of medicine

VIVA ACADEMY 2019 COPYRIGHT RESERVED

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