Title
Gene conversion between red and defective green opsin gene in blue cone monochromacy Gene conversion between red and defective green opsin gene in blue cone monochromacy
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
San Diego, Calif. ,
Subject
Biology
Human medicine
Engineering sciences. Technology
Source (journal)
Genomics: international journal of gene mapping and nucleotide sequencing. - San Diego, Calif.
Volume/pages
29(1995) :2 , p. 323-328
ISSN
0888-7543
ISI
A1995RY05500002
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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. (C) 1995 Academic Press, Inc.
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