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Angelman Syndrome

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Telesha Duke

on 29 January 2014

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Transcript of Angelman Syndrome

Color Blindness
What is Color Blindness?

(G
CT,ATG,ACC,A
TG,ATT,ACG,CCA,TGA,ACA,GGC,TTT,GCT,C)
Colorblindness is not always hereditary
Non-hereditary: Shaken Baby Syndrome, Trauma, UV Damage, Aging, Eye problems such as glaucoma, cataracts, or diabetic
Symptoms:
Trouble seeing colors and the brightness of colors in the usual way

Inability to tell the difference between shades of the same or similar colors
People with Color blindness have trouble seeing: Red, Green, Blue or a mix of these colors.

Color blindness is also called color vision problem or Color Vision Deficiency.

Yellow color blindness, They are more common than total color blindness and occur more frequently in males. People with red-green color blindness cannot differentiate between red and green colors while people with the blue-yellow variant have trouble identifying blue and yellow colors.


DNA sequence for Color blindness
(
CGT,TGT,AAA,A
CG,ACG,GCC,AGT,GTG,TTT,GAC,TCA,GCC,TAG,C)
= Normal
= Color blindness DNA sequence
There was a frame shift because of substitution.
(GCU,UCA,UUU,UGC,UGC,CGG,UCU,CUC;AAA,CUG,AGU,CGG,AUC,G)
= mRNA
Colorblindness is most common in males than females because females have an extra x chromosome.
Who it affects:
*Colorblindness is a single gene that is inherited on the X chromosome. Boys are more likely to be colorblind, but if a girl's father is colorblind and her mother is either colorblind or a carrier for colorblindness, the girl can be colorblind too.
Often, the symptoms may be so mild that some people do not know they are color blind. A parent may notice signs of color blindness when a child is learning his or her colors.
You may see many colors, so you may not know that you see color differently from others.
How to diagnose colorblindness
In one type of test, you look at sets of colored dots and try to find a pattern in them, such as a letter or number. The patterns you see help your doctor know which colors you have trouble with.

In another type of test, you arrange colored chips in order according to how similar the colors are. People with color vision problems cannot arrange the colored chips correctly.
Sources:
http://www.ncbi.nlm.nih.gov/pubmed/15800037
http://www.webmd.com/eye-health/tc/color-blindness-topic-overview
http://www.webmd.com/eye-health/tc/color-blindness-topic-overview
http://www.drugs.com/enc/color-blindness.html
http://www.webexhibits.org/causesofcolor/2C.html
Full transcript