Genetic Disorders

May 14th, 2015
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University of London
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If both parents have normal vision, mother must be heterozygous, Father cannot be source of red-green color blindness.

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GENETICDISORDERSColorBlindnessWHATISCOLORBLINDNESSPerceivinganarrowercolorspectrum Inabilitytodistinguishbetweencolors Troubleinseeingred,blueorgreencolors ColorBlindnessisageneticdiseaseREDGREENCOLORBLINDNESSSexlinkedrecessivetrait EncodedonthesexchromosomeX Menhave1Xchromosome(XY) WomenhavetwoXchromosomes(XX)BLUEYELLOWCOLORBLINDNESSAutosomalDominantTrait Notencodedonsexchromosome EqualforbothmenandwomenHISTORYOFCOLORBLINDNESSJohnDaltonDescribedfirstcasein1793 JohnDaltonhimselfwascolorblind ThomasYoungandHermannHelmholtzdescribedtrichromaticcolorvision GaleEncyclopediaofChildrenHealthdiscoveredchromosome2in1997COMMONALITIESDeficiencyofanyofthreetypesofcones Morecommoninmenascomparedtowomen Red/greencolordeficiencyismostcommon BluecolorBlindnessisinabilitytodistinguishblueandyellow TotalinabilitytodistinguishcolorsisrareDIAGNOSISColorBlindnessteststoidentifyproblems IshiharaPlateTest ProfessionaleyespecialistdoctorsMANAGEMENTLimiteduseofAlcoholandDrugs Adaptingtojobsthatarelesscolororiented Rememberitemsbytheirordernotbytheircolor A

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