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Year 10 Science: Genetic Testing: Genetic Testing

Vocabulary - Genetic Testing

Genetic testing: any of a group of procedures used to identify gene variations associated with health, disease, and ancestry and to diagnose inherited diseases and disorders

Human genetic disease: any of the diseases and disorders that are caused by mutations in one or more genes.

Congenital disorder: abnormality of structure and, consequently, function of the human body arising during development.

Heredity: the sum of all biological processes by which particular characteristics are transmitted from parents to their offspring.

Genetics: study of heredity in general and of genes in particular. Genetics forms one of the central pillars of biology and overlaps with many other areas, such as agriculture, medicine , and biotechnology.

Source: Genetic testing (2011). . Tribune Content Agency LLC.

Genetic Disorders and Diseases

Human Genetic Disease
General overview from Britannica.
What is a Genetic Disorder?

Fragile-X Syndrome

Fragile X-Syndrome
Fragile-X syndrome, a chromosomal disorder associated with a fragile site on the end of the X chromosome. The major symptom of the syndrome is diminished mental ability, which may range from mild learning impairment to severe intellectual disability.
Source: Britannica

Huntington's Disease

Huntington's Disease
A child of someone with Huntington disease has a 50 percent chance of inheriting the genetic mutation associated with the disease, and all individuals who inherit the mutation will eventually develop the disease.
Source: Britannica
Huntington's Disease
Australian Government website with links to further information.

Cystic Fibrosis

Cystic fibrosis
Cystic fibrosis is an inherited disorder mainly affecting people of European ancestry...only persons inheriting a defective gene from both parents will manifest the disease.
Source: Britannica
Cystic Fibrosis
Australian Government website with links to further information.

Down's Syndrome

Down's Syndrome
Down syndrome, also called Down’s syndrome, trisomy 21, or (formerly) mongolism, congenital disorder caused by the presence in the human genome of extra genetic material from chromosome 21.
Down's Syndrome
Australian Government website with links to further information.

Haemophilia

Haemophilia
Hemophilia, also spelled haemophilia, hereditary bleeding disorder caused by a deficiency of a substance necessary for blood clotting (coagulation). In hemophilia A, the missing substance is factor VIII. The increased tendency to bleeding usually becomes noticeable early in life and may lead to severe anemia or even death.
Source: Britannica