This Biology Factsheet summarises:
• How a change in the base sequence of a gene can result in genetic disease.
• Descriptions of specific diseases caused by gene mutation, for example, sickle-cell anaemia, cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, Huntington’s chorea, haemophilia and colour blindness.
• Possible treatment of genetic disease by gene therapy.
• Chromosomal defects and their results, for example, Down’s syndrome.
• The need for genetic screening and counselling and the implications of the Human Genome Project for sufferers of, and people at risk of, genetic disease.

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.PDF (pdf) 46.366 KB

Publication Date

September 2002

ISSN / ISBN

ISSN: 1351-5136

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