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

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Campo DC	Valor	Lengua/Idioma
dc.contributor.author	Inglehearn, Christopher F.	-
dc.contributor.author	Bhattacharya, Shom Shanker	-
dc.date.accessioned	2011-09-29T08:29:04Z	-
dc.date.available	2011-09-29T08:29:04Z	-
dc.date.issued	1991-01	-
dc.identifier.citation	American journal of human genetics 48(1): 26-30 (1991)	es_ES
dc.identifier.issn	0002-9297	-
dc.identifier.uri	http://hdl.handle.net/10261/40240	-
dc.description	5 páginas, 4 figuras.-- et al.	es_ES
dc.description.abstract	Autosomal 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.	es_ES
dc.description.sponsorship	We are grateful to the Wellcome Foundation, National Retinitis Pigmentosa Foundation Fighting Blindness USA, and the George Gund Foundation for funding this research.	es_ES
dc.language.iso	eng	es_ES
dc.publisher	American Society of Human Genetics	es_ES
dc.rights	openAccess	es_ES
dc.title	A 3-bp Deletion in the Rhodopsin Gene in a Family with Autosomal Dominant Retinitis Pigmentosa	es_ES
dc.type	artículo	es_ES
dc.description.peerreviewed	Peer reviewed	es_ES
dc.identifier.e-issn	1537-6605	-
dc.type.coar	http://purl.org/coar/resource_type/c_6501	es_ES
item.cerifentitytype	Publications	-
item.openairecristype	http://purl.org/coar/resource_type/c_18cf	-
item.grantfulltext	open	-
item.openairetype	artículo	-
item.fulltext	With Fulltext	-
item.languageiso639-1	en	-
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