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Geneticmutations 131005025415-phpapp01
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Transcript of Geneticmutations 131005025415-phpapp01
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Presentation by NkululekoWiseman Maholwana
Please view the referenced sources on the last slide.
Genetic Mutations
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Animal Mutations and Disorders
Mutations
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holoprosencephaly.
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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
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Downs Syndrome
Edwards Syndrome
Patau Syndrome
Klinefelter Syndrome
Turner Syndrome
Diseases
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Hypertrichosis - Werewolf Syndrome
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Harlequin ichthyosis –
affecting skin growth
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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
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Trisomy – 3 homologous chromosomes
eg. Down syndrome = 3 no. 21 chromosomes
Monosomy – only one sex chromosome XO
Eg. Turner’s syndrome
Mutations
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Kleinfelter’s Syndrome
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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.
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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
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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?
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Patients are unable to produce skin or eye pigments, and thus are light-sensitive
Autosomal recessive Therefore, is it monogenic or
chromosomal?
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Monogenic, autosomal*Carriers express genes, therefore, is it dominant or recessive?
*There is also a disease called gigantism (Andre the Giant)
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One or both feet can be affected
Affects 1 out of every 100 births
Risk factors: family history of disorder and being male
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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
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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
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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
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Y-linked trait, which are rare
symptoms…hairy ears
Only 1 cure known….
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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