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

 Animal Mutations and Disorders
Geneticmutations 131005025415-phpapp01
holoprosencephaly.
Geneticmutations 131005025415-phpapp01
 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=wshhk0A758v
5lEkmCKrk
 http://www.buzzle.com/articles/ge
netic-diseases-list-disorders.html
 http://en.wikipedia.org/wiki/List_o
f_genetic_disorders
Mutations

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

 Monosomy – only one sex
chromosome XO
Eg. Turner’s syndrome
Kleinfelter’s Syndrome
Geneticmutations 131005025415-phpapp01
 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.
Geneticmutations 131005025415-phpapp01
 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 greek
meaning “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=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

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