Biomaterial Database

[Visual pigment genes for color vision defects]. 1990

Q Zhang, and W Mao, and Q Ma, and R Zeng, and L Wu, and D Wu, and Y Chen

Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China.

Applying recombinant DNA techniques, the structures of red pigment gene (RPG) and green pigment gene (GPG) were analyzed for 43 patients with protan or deutan (including 3 females), 4 normal relatives and 3 carriers out of 3 families, as well as 11 normal controls. Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan. In about 80% (32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered. In protan the normal RPG was replaced by a 5' red -3' green hybrid gene. Some of the deutan had no GPG, some had 5' green -3' red hybrid gene with or without GPG. Furthermore, the exon 5 of RPG and GPG was amplified by polymerase chain reaction (PCR) and further analyzed by Rsa I digestion. The results for PCR are identical to that of Southern blot hybridization.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D003117	Color Vision Defects	Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.	Achromatopsia,Color Blindness,Monochromatopsia,Color Blindness, Acquired,Color Blindness, Blue,Color Blindness, Green,Color Blindness, Inherited,Color Blindness, Red,Color Blindness, Red-Green,Color Vision Deficiency,Deutan Defect,Protan Defect,Tritan Defect,Achromatopsias,Acquired Color Blindness,Blindness, Color,Blue Color Blindness,Color Blindness, Red Green,Color Vision Defect,Color Vision Deficiencies,Defect, Color Vision,Defect, Deutan,Defects, Color Vision,Deficiencies, Color Vision,Deficiency, Color Vision,Green Color Blindness,Inherited Color Blindness,Red Color Blindness,Red-Green Color Blindness,Vision Defect, Color,Vision Defects, Color,Vision Deficiencies, Color,Vision Deficiency, Color
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260	Female		Females
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012168	Retinal Pigments	Photosensitive protein complexes of varied light absorption properties which are expressed in the PHOTORECEPTOR CELLS. They are OPSINS conjugated with VITAMIN A-based chromophores. Chromophores capture photons of light, leading to the activation of opsins and a biochemical cascade that ultimately excites the photoreceptor cells.	Retinal Photoreceptor Pigment,Retinal Pigment,Visual Pigment,Visual Pigments,Retinal Photoreceptor Pigments,Photoreceptor Pigment, Retinal,Photoreceptor Pigments, Retinal,Pigment, Retinal,Pigment, Retinal Photoreceptor,Pigment, Visual,Pigments, Retinal,Pigments, Retinal Photoreceptor,Pigments, Visual
D014960	X Chromosome	The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.	Chromosome, X,Chromosomes, X,X Chromosomes
D015342	DNA Probes	Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.	Chromosomal Probes,DNA Hybridization Probe,DNA Probe,Gene Probes, DNA,Conserved Gene Probes,DNA Hybridization Probes,Whole Chromosomal Probes,Whole Genomic DNA Probes,Chromosomal Probes, Whole,DNA Gene Probes,Gene Probes, Conserved,Hybridization Probe, DNA,Hybridization Probes, DNA,Probe, DNA,Probe, DNA Hybridization,Probes, Chromosomal,Probes, Conserved Gene,Probes, DNA,Probes, DNA Gene,Probes, DNA Hybridization,Probes, Whole Chromosomal