GENE CONVERSION BETWEEN RED AND DEFECTIVE GREEN OPSIN GENE IN BLUE CONE MONOCHROMACY

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 inact ivating C203R point mutation in GCP. We describe here a family with bl ue 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 o f RCP were characteristic for GCP, indicating that this mutation was t ransferred from GCP into RCP by gene conversion. (C) 1995 Academic Pre ss, Inc.