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Genetic Disorders

Genetic disorders are inherited conditions caused by mutations in genes or chromosomes, affecting normal body functioning. The Human Genome Project has helped identify genes linked to disorders such as Down's syndrome, Sickle cell anaemia, Haemophilia, and Albinism, each with distinct causes and symptoms. For example, Down's syndrome results from non-disjunction of chromosome 21, while Sickle cell anaemia is caused by a mutation on chromosome 11.

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70 views3 pages

Genetic Disorders

Genetic disorders are inherited conditions caused by mutations in genes or chromosomes, affecting normal body functioning. The Human Genome Project has helped identify genes linked to disorders such as Down's syndrome, Sickle cell anaemia, Haemophilia, and Albinism, each with distinct causes and symptoms. For example, Down's syndrome results from non-disjunction of chromosome 21, while Sickle cell anaemia is caused by a mutation on chromosome 11.

Uploaded by

Bio Sciences
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOC, PDF, TXT or read online on Scribd

GENETIC DISORDERS:

This is a condition that may be inherited and that results in disturbance of a person’s normal body functioning. Mutations
of genes or chromosomes may cause a person to have a genetic disorder. The greatest benefits of the Human Genome
Project have allowed scientists to locate the genes responsible for thousands of genetic disorders. Examples of FOUR
genetic disorders to be studied are: Down’s syndrome, Sickle cell anaemia, Haemophilia and Albinism.

GENETIC DISORDER NATURE CAUSES SYMPTOMS


If non-disjunction It is caused by faulty Mental retardation because
(chromosomes do not meiotic division during the the brain has not developed
separate during meiosis) production of gametes. properly.
happens in chromosome 21 Hearing, heart and eyes
during gamete formation, a defects
zygote with 47 chromosomes Depressed nasal bridge
is produced. Small hands and fingers
Down’s syndrome

Sickle cell Sickle-cell anaemia causes It is caused by a single Spleen enlargement


anaemia the red blood corpuscles to mutated gene on Fatigue
become sickle shaped and chromosome number 11. Damage to parts of the
this causes blockage in the brain leading to stroke
small blood vessels.

Haemophilia Bleeding caused by the lack Caused by two genes. Abnormal bleeding
of essential blood clotting Both Haemophilia A and B Bleeding in the muscles and
factors. are caused by X- linked joints causes pain and
recessive genes. severe swelling
Muscle atrophy – muscles
simply waste away.
Albinism Refers to a group of genetic Caused by a single pair of Poor vision.
disorders all of which are recessive alleles and will Sunburn can result in
characterised by a lack of the only show in the blisters, sores and
pigment melanin. homozygous state. eventually skin cancer.

An albino (front)
and a person
with normal
pigmentation
(back)

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