Genetic
Mutations
Presentation by Nkululeko
Wiseman Maholwana
Please view the referenced
sources on the last slide
.
Mutations

 Animal Mutations and Disorders
holoprosencephaly.
 Please be very respectful when
viewing the following photos and
videos. These are real life
 We should be all very grat...






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=wshhk0A758v
5lEkmCKrk
 http://www.buzzle.com/articles/ge
netic-disea...
Mutations

 Trisomy – 3 homologous
chromosomes
eg. Down syndrome = 3 no. 21
chromosomes

 Monosomy – only one sex
chromo...
Kleinfelter’s Syndrome
 Huntington's disease (HD)
is an inherited,
degenerative brain disorder
which results in an eventual
loss of both mental ...
 Disease in which the body does
not produce or properly use
insulin.
 Insulin is a hormone that is needed to
convert sug...
Cause: x-linked
recessive
1/10 males have, 1/100
females have. Why the
difference?
Individuals are unable
to distinguis...
 Patients are unable to produce skin
or eye pigments, and thus are
light-sensitive
 Autosomal recessive
 Therefore, is ...
 Monogenic, autosomal
*Carriers express genes, therefore, is it
dominant or recessive?
*There is also a disease called gi...
One or both feet can be
affected
Affects 1 out of every 100
births
Risk factors: family history
of disorder and being
m...
 Literally means “bone that is
imperfectly made from the
beginning of life”
 Also called “brittle bone
disease”
 Most c...
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...
 Rare, fatal genetic disorder
 Name comes from greek
meaning “prematurely old”
 Mutation in gene called LMNA
 Children...
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=wshhk0A758v
5lEkmCKrk
 http://www.bu...
Geneticmutations 131005025415-phpapp01
Geneticmutations 131005025415-phpapp01
Geneticmutations 131005025415-phpapp01
Geneticmutations 131005025415-phpapp01
Upcoming SlideShare
Loading in …5
×

Geneticmutations 131005025415-phpapp01

254 views
107 views

Published on

0 Comments
0 Likes
Statistics
Notes
  • Be the first to comment

  • Be the first to like this

No Downloads
Views
Total views
254
On SlideShare
0
From Embeds
0
Number of Embeds
1
Actions
Shares
0
Downloads
1
Comments
0
Likes
0
Embeds 0
No embeds

No notes for slide

Geneticmutations 131005025415-phpapp01

  1. 1. Genetic Mutations Presentation by Nkululeko Wiseman Maholwana Please view the referenced sources on the last slide .
  2. 2. Mutations  Animal Mutations and Disorders
  3. 3. holoprosencephaly.
  4. 4.  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
  5. 5.      Downs Syndrome Edwards Syndrome Patau Syndrome Klinefelter Syndrome Turner Syndrome Diseases
  6. 6. Hypertrichosis - Werewolf Syndrome
  7. 7. Harlequin ichthyosis – affecting skin growth
  8. 8.  http://www.worldstarhiphop.com/ videos/video.php?v=wshhk0A758v 5lEkmCKrk  http://www.buzzle.com/articles/ge netic-diseases-list-disorders.html  http://en.wikipedia.org/wiki/List_o f_genetic_disorders
  9. 9. Mutations  Trisomy – 3 homologous chromosomes eg. Down syndrome = 3 no. 21 chromosomes  Monosomy – only one sex chromosome XO Eg. Turner’s syndrome
  10. 10. Kleinfelter’s Syndrome
  11. 11.  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.
  12. 12.  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
  13. 13. 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?
  14. 14.  Patients are unable to produce skin or eye pigments, and thus are light-sensitive  Autosomal recessive  Therefore, is it monogenic or chromosomal?
  15. 15.  Monogenic, autosomal *Carriers express genes, therefore, is it dominant or recessive? *There is also a disease called gigantism (Andre the Giant)
  16. 16. One or both feet can be affected Affects 1 out of every 100 births Risk factors: family history of disorder and being male
  17. 17.  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
  18. 18. 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
  19. 19.  Rare, fatal genetic disorder  Name comes from greek meaning “prematurely old”  Mutation in gene called LMNA  Children usually die of heart disease by age 8-13  100 cases since 1886
  20. 20. Y-linked trait, which are rare symptoms…hairy ears Only 1 cure known….
  21. 21.  Campbel &Reece,(2010) Biology  http://www.worldstarhiphop.com/ videos/video.php?v=wshhk0A758v 5lEkmCKrk  http://www.buzzle.com/articles/ge netic-diseases-list-disorders.html  http://geneslide.org/List_of_geneti c_disorders  http://www.smh.com.au/ftimages/ 2007/09/27/1190486456395.html

×