English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/40240
Share/Impact:
Statistics
logo share SHARE   Add this article to your Mendeley library MendeleyBASE
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

A 3-bp Deletion in the Rhodopsin Gene in a Family with Autosomal Dominant Retinitis Pigmentosa

AuthorsInglehearn, Christopher F.; Bhattacharya, Shom Shanker
Issue DateJan-1991
PublisherAmerican Society of Human Genetics
CitationAmerican journal of human genetics 48(1): 26-30 (1991)
AbstractAutosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon and in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCATCAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome.
Description5 páginas, 4 figuras.-- et al.
URIhttp://hdl.handle.net/10261/40240
ISSN0002-9297
E-ISSN1537-6605
Appears in Collections:(CABIMER) Artículos
Files in This Item:
File Description SizeFormat 
ARTICULOS315775[1].pdf1,25 MBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.