Presentation by NkululekoWiseman Maholwana

Please view the referenced sources on the last slide.

Genetic Mutations

Animal Mutations and Disorders

Mutations

holoprosencephaly.

Please be very respectful when viewing the following photos and videos. These are real life

We should be all very grateful for being healthy, for being who we are, and having what we have.

Human Diseases

Downs Syndrome

Edwards Syndrome

Patau Syndrome

Klinefelter Syndrome

Turner Syndrome

Diseases

Hypertrichosis - Werewolf Syndrome

Harlequin ichthyosis –

affecting skin growth

http://www.worldstarhiphop.com/videos/video.php?v=wshhk0A758v5lEkmCKrk

http://www.buzzle.com/articles/genetic-diseases-list-disorders.html

http://en.wikipedia.org/wiki/List_of_genetic_disorders

Trisomy – 3 homologous chromosomes

eg. Down syndrome = 3 no. 21 chromosomes

Monosomy – only one sex chromosome XO

Eg. Turner’s syndrome

Mutations

Kleinfelter’s Syndrome

Huntington's disease (HD) is an inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control. The disease is also known as Huntington's chorea. Chorea means "dance-like movements" and refers to the uncontrolled motions often associated with the disease.

Disease in which the body does

not produce or properly use insulin. Insulin is a hormone that is needed to

convert sugar, starches, and other food into energy needed for daily life.

Genetic mutation can lead to Type 1 diabetes, but no one sure if relative to a specific gene

Cause: x-linked recessive

1/10 males have, 1/100 females have. Why the difference?

Individuals are unable to distinguish shades of red-green.

Are you color blind?

Patients are unable to produce skin or eye pigments, and thus are light-sensitive

Autosomal recessive Therefore, is it monogenic or

chromosomal?

Monogenic, autosomal*Carriers express genes, therefore, is it dominant or recessive?

*There is also a disease called gigantism (Andre the Giant)

One or both feet can be affected

Affects 1 out of every 100 births

Risk factors: family history of disorder and being male

Literally means “bone that is imperfectly made from the beginning of life”

Also called “brittle bone disease”

Most cases caused by dominant genetic defect or spontaneous mutation

1 in 20,000 births

1 in 700 children will be born with a cleft-related birth defect

Most are boys

If a person has a cleft defect, there is a 50% possibility of passing gene to an offspring

Rare, fatal genetic disorder

Name comes from greekmeaning “prematurely old”

Mutation in gene called LMNA

Children usually die of heart disease by age 8-13

100 cases since 1886

Y-linked trait, which are rare

symptoms…hairy ears

Only 1 cure known….

Campbel &Reece,(2010) Biology

http://www.worldstarhiphop.com/videos/video.php?v=wshhk0A758v5lEkmCKrk

http://www.buzzle.com/articles/genetic-diseases-list-disorders.html

http://geneslide.org/List_of_genetic_disorders

http://www.smh.com.au/ftimages/2007/09/27/1190486456395.html