[Genetics of congenital color vision defects. I. Common types of color blindness].
Normal human colour vision is based on the presence of 3 kinds of cones containing 3 different visual pigments, sensitive to short (blue), middle (green) and long (red) wavelengths. Congenital defects of colour vision are based on handicap or total loss of these pigments' function, usually a result of changes in their coding genes. The common types of colour blindness, referred to red-green axis, are present in about 8% of males and 0.44% of females. 3/4 of them are deuteranopes or deuteranomalous trichromats and 1/4 of them are protanopes or protanomalous trichromats. All of them are inherited in X-linked recessive way. The genes have been already mapped and sequenced. The cause of the great majority of their changes is nonhomologous recombination, which produces a gene deletion or creates the red-green or green-red hybrid genes. The result of that is the production of visual pigment with partly or totally changed spectral sensitivity.
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Zakładu Genetyki Kliniki Instytutu Pediatrii AM w Poznaniu.
D003117:Color Vision Defects / Q000151:congenital* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010641:Phenotype; D014960:X Chromosome
Genetyka wrodzonych zaburzeń widzenia barwnego Cześć I: Popularne formy ślepoty barwnej.