1. Gene conversion between red and defective green opsin gene in blue cone monochromacy.
- Author
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Reyniers E, Van Thienen MN, Meire F, De Boulle K, Devries K, Kestelijn P, and Willems PJ
- Subjects
- Base Sequence, Chromosome Mapping, Color Perception genetics, DNA Primers, Female, Genetic Linkage, Humans, Male, Molecular Sequence Data, Pedigree, Point Mutation, Polymerase Chain Reaction, Color Vision Defects genetics, Gene Conversion, Retinal Cone Photoreceptor Cells physiopathology, Rod Opsins genetics, X Chromosome
- Abstract
Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.
- Published
- 1995
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