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Genetic Disease - Color Blindness

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by

Rainnie Fang

on 21 May 2013

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Transcript of Genetic Disease - Color Blindness

Symptoms Genetic Disease - Color Blindness may see some colors but not others
may see many colors, so you may not know that you see color differently from others.
may see a few shades of color
In rare cases, may see only black, white, and gray. Chromosome? & Mutation? usually genetically mutated gene on the X chromosome
19 different chromosomes and 56 different genes (as shown online at the Online Mendelian Inheritance in Man (OMIM) database at Johns Hopkins University) Punnet Square http://i647.photobucket.com/albums/uu193/Mumble9954/PunnetSquy.jpg Protein? & How Mutation causes symptoms? human retina: the rod cells (active in low light) and the cone cells (active in normal light)
3 cones: blue, green, and yellow-green regions of the spectrum
wrong overlap --> different shade of specific color
Proteins:
OPSIN
Rhodopsin
Blue Rhodopsin
Green Rhodopsin
Red Rhodopsin Special Groups with High Prevalence? *Males --> 1 X chromosome,
Females --> 2 X chromosome
In females, if one X chromosome --> defective, the normal one --> protect --> x color blind. By Rainnie Fang -- WebMD (Eye Health Center) -- colour-blindness.com -- wikipedia.org If a normal male and a female carrier marry:
1/2 normal
1/4 carrier (female)
1/4 color blindness (male) How Common? affects a significant number of people
In U.S:
7% male
0.4% female
x distinguish red from green, or see red and green differently from how others do (Howard Hughes Medical Institute, 2006)
> 95% of all variations in human color vision involve the red and green receptors in male eyes. -- Wikipedia http://www.colour-blindness.com/wp-content/uploads/XlinkRecessive.jpg Pedigree http://www.hinsdale86.org/staff/kgabric/Disease11/Colorblindness/Images/pedigree.jpg Treatment inherited --> no
acquired --> yes
wear colored contact lenses --> help see differences between colors (but x provide normal color vision and can distort objects)
wear glasses that block glare --> see differences between colors better when less glare and brightness
learn to look for cues like brightness or location, rather than colors. -- WebMD (Eye Health Center) Works Cited:
http://i647.photobucket.com/albums/uu193/Mumble9954/PunnetSquy.jpg
http://en.wikipedia.org/wiki/Color_blindness
http://www.webmd.com/eye-health/tc/color-blindness-topic-overview
http://www.news-medical.net/health/What-Causes-Color-Blindness.aspx
http://www.colour-blindness.com/general/causes/
http://www.colour-blindness.com/wp-content/uploads/XlinkRecessive.jpg
http://www.hinsdale86.org/staff/kgabric/Disease11/Colorblindness/Images/pedigree.jpg
http://www.colour-blindness.com/CBTests/ishihara/Plate2.gif
http://www.colour-blindness.com/CBTests/ishihara/Plate6.gif
http://www.colour-blindness.com/CBTests/ishihara/Plate19.gif
http://www.colour-blindness.com/CBTests/ishihara/Plate21.gif
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